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{{Infobox_gene}}
{{PBB_Controls
'''NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6''', also known as '''complex I-B17''', is a [[protein]] that in humans is encoded by the ''NDUFB6'' [[gene]].<ref name="pmid9763677">{{cite journal | vauthors = Emahazion T, Beskow A, Gyllensten U, Brookes AJ | title = Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain | journal = Cytogenetics and Cell Genetics | volume = 82 | issue = 1–2 | pages = 115–9 | date = Nov 1998 | pmid = 9763677 | pmc =  | doi = 10.1159/000015082 }}</ref><ref name="pmid9760212">{{cite journal | vauthors = Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, van den Heuvel L | title = Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I | journal = Human Genetics | volume = 103 | issue = 2 | pages = 245–50 | date = Aug 1998 | pmid = 9760212 | pmc =  | doi = 10.1007/s004390050813 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4712| accessdate = }}</ref> NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 6, is an accessory subunit of the [[NADH dehydrogenase (ubiquinone)]] complex, located in the [[mitochondrial inner membrane]]. It is also known as [[Complex I]] and is the largest of the five complexes of the [[electron transport chain]].<ref name = "Biochem">{{cite book | first1 = Donald | last1 = Voet | first2 = Judith G. | last2 = Voet | first3 = Charlotte W. | last3 = Pratt | name-list-format = vanc | author1-link = Donald Voet | author2-link = Judith G. Voet | title = Fundamentals of biochemistry: life at the molecular level | date = 2013 | publisher = Wiley | location = Hoboken, NJ | isbn = 978-0-470-54784-7 | chapter = Chapter 18 | pages = 581–620 | edition = 4th }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Gene ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa
| HGNCid = 7701
| Symbol = NDUFB6
| AltSymbols =; B17; CI; MGC13675
| OMIM = 603322
| ECnumber = 
| Homologene = 1864
| MGIid = 2684983
| GeneAtlas_image1 = PBB_GE_NDUFB6_203613_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003954 |text = NADH dehydrogenase activity}} {{GNF_GO|id=GO:0008137 |text = NADH dehydrogenase (ubiquinone) activity}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
| Process = {{GNF_GO|id=GO:0006120 |text = mitochondrial electron transport, NADH to ubiquinone}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4712
    | Hs_Ensembl = ENSG00000165264
    | Hs_RefseqProtein = NP_002484
    | Hs_RefseqmRNA = NM_002493
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 32542997
    | Hs_GenLoc_end = 32563182
    | Hs_Uniprot = O95139
    | Mm_EntrezGene = 230075
    | Mm_Ensembl = ENSMUSG00000071014
    | Mm_RefseqmRNA = NM_001033305
    | Mm_RefseqProtein = NP_001028477
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 40459334
    | Mm_GenLoc_end = 40468039
    | Mm_Uniprot = Q3UIU2
  }}
}}
'''NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa''', also known as '''NDUFB6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4712| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
The NDUFB6 gene is located on the p arm of [[chromosome 9]] in position 21.1 and is 19,659 base pairs long.<ref name=COPaKB>{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = Oct 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}</ref><ref name="url_COPaKB">{{cite web | url = http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=O95139 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 }}</ref>
{{PBB_Summary
| section_title =  
| summary_text = The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.<ref name="entrez">{{cite web | title = Entrez Gene: NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4712| accessdate = }}</ref>
}}


==References==
== Structure ==
{{reflist|2}}
 
==Further reading==
The NDUFB6 protein weighs 17 kDa and is composed of 128 amino acids.<ref name=COPaKB/><ref name="url_COPaKB"/> NDUFB6 is a subunit of the enzyme [[NADH dehydrogenase (ubiquinone)]], the largest of the respiratory complexes. The structure is L-shaped with a long, [[hydrophobic]] [[transmembrane]] domain and a [[hydrophilic]] domain for the peripheral arm that includes all the known redox centers and the NADH binding site.<ref name = "Biochem"/> It has been noted that the [[N-terminus|N-terminal]] hydrophobic domain has the potential to be folded into an [[alpha helix]] spanning the inner [[mitochondrion|mitochondrial membrane]] with a [[C-terminus|C-terminal]] hydrophilic domain interacting with globular subunits of Complex I. The highly [[conserved sequence|conserved]] two-domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the [[NADH dehydrogenase (ubiquinone)]] complex at the inner mitochondrial membrane.<ref name = "entrez" />
{{refbegin | 2}}
 
{{PBB_Further_reading
== Function ==
| citations =  
 
*{{cite journal | author=Smeitink J, van den Heuvel L |title=Human mitochondrial complex I in health and disease. |journal=Am. J. Hum. Genet. |volume=64 |issue= 6 |pages= 1505-10 |year= 1999 |pmid= 10330338 |doi= }}
The protein encoded by this gene is an accessory subunit of the multisubunit NADH:ubiquinone oxidoreductase ([[complex I]]) that is not directly involved in catalysis.<ref name="entrez"/> However, NDUFB6 is required for electron transfer activity.<ref>{{cite journal | vauthors = Loublier S, Bayot A, Rak M, El-Khoury R, Bénit P, Rustin P | title = The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: a proof of principle study on stable and controlled RNA interference in human cell lines | journal = Biochemical and Biophysical Research Communications | volume = 414 | issue = 2 | pages = 367–72 | date = Oct 2011 | pmid = 21964293 | doi = 10.1016/j.bbrc.2011.09.078 }}</ref> Mammalian complex I is composed of 44 different subunits. It locates at the [[mitochondrial inner membrane]]. This protein complex has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the [[respiratory chain]]. The immediate electron acceptor for the enzyme is believed to be [[ubiquinone]]. [[Alternative splicing]] occurs at this locus and two transcript variants encoding distinct isoforms have been identified.<ref name="entrez"/> Initially, [[NADH]] binds to Complex I and transfers two electrons to the [[isoalloxazine ring]] of the [[flavin mononucleotide]] (FMN) prosthetic arm to form FMNH<sub>2</sub>. The electrons are transferred through a series of [[iron-sulfur protein|iron-sulfur (Fe-S) clusters]] in the prosthetic arm and finally to coenzyme Q10 (CoQ), which is reduced to [[ubiquinol]] (CoQH<sub>2</sub>). The flow of electrons changes the redox state of the protein, resulting in a conformational change and p''K'' shift of the ionizable side chain, which pumps four hydrogen ions out of the mitochondrial matrix.<ref name=Biochem />
*{{cite journal | author=Earley FG, Ragan CI |title=Identification of the subunits of bovine heart mitochondrial NADH dehydrogenase that are exposed to the phospholipid bilayer by photo-labelling with 5-iodonaphth-1-yl azide. |journal=Biochem. J. |volume=191 |issue= 2 |pages= 429-36 |year= 1981 |pmid= 7236204 |doi= }}
 
*{{cite journal | author=Smeitink J, Loeffen J, Smeets R, ''et al.'' |title=Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I. |journal=Hum. Genet. |volume=103 |issue= 2 |pages= 245-50 |year= 1998 |pmid= 9760212 |doi= }}
== Clinical significance ==
*{{cite journal | author=Emahazion T, Beskow A, Gyllensten U, Brookes AJ |title=Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. |journal=Cytogenet. Cell Genet. |volume=82 |issue= 1-2 |pages= 115-9 |year= 1998 |pmid= 9763677 |doi=  }}
 
*{{cite journal | author=Loeffen JL, Triepels RH, van den Heuvel LP, ''et al.'' |title=cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. |journal=Biochem. Biophys. Res. Commun. |volume=253 |issue= 2 |pages= 415-22 |year= 1999 |pmid= 9878551 |doi= 10.1006/bbrc.1998.9786 }}
Decreased expression of genes involved in oxidative phosphorylation, including NDUFB6, is associated with [[insulin resistance]] and [[type 2 diabetes]]. A [[Polymorphism (biology)#Genetic polymorphism|polymorphism]] in the promoter region of the NDFUB6 gene resulting in an [[adenine]] to [[guanine]] shift at rs629566 was shown to create a DNA methylation site that is associated with a decline in NDUFB6 expression in muscle of aging patients.<ref>{{cite journal | vauthors = Ling C, Poulsen P, Simonsson S, Rönn T, Holmkvist J, Almgren P, Hagert P, Nilsson E, Mabey AG, Nilsson P, Vaag A, Groop L | title = Genetic and epigenetic factors are associated with expression of respiratory chain component NDUFB6 in human skeletal muscle | journal = The Journal of Clinical Investigation | volume = 117 | issue = 11 | pages = 3427–35 | date = Nov 2007 | pmid = 17948130 | doi = 10.1172/JCI30938 | pmc=2030455}}</ref>
*{{cite journal | author=Zhang QH, Ye M, Wu XY, ''et al.'' |title=Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. |journal=Genome Res. |volume=10 |issue= 10 |pages= 1546-60 |year= 2001 |pmid= 11042152 |doi= }}
 
*{{cite journal | author=Bénit P, Chretien D, Kadhom N, ''et al.'' |title=Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1344-52 |year= 2001 |pmid= 11349233 |doi= }}
== References ==
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
{{reflist|33em}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
 
*{{cite journal  | author=Humphray SJ, Oliver K, Hunt AR, ''et al.'' |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369-74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 }}
== Further reading ==
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
{{refbegin|33em}}
*{{cite journal  | author=Vogel RO, Dieteren CE, van den Heuvel LP, ''et al.'' |title=Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. |journal=J. Biol. Chem. |volume=282 |issue= 10 |pages= 7582-90 |year= 2007 |pmid= 17209039 |doi= 10.1074/jbc.M609410200 }}
* {{cite journal | vauthors = Smeitink J, van den Heuvel L | title = Human mitochondrial complex I in health and disease | journal = American Journal of Human Genetics | volume = 64 | issue = 6 | pages = 1505–10 | date = Jun 1999 | pmid = 10330338 | pmc = 1377894 | doi = 10.1086/302432 }}
}}
* {{cite journal | vauthors = Earley FG, Ragan CI | title = Identification of the subunits of bovine heart mitochondrial NADH dehydrogenase that are exposed to the phospholipid bilayer by photo-labelling with 5-iodonaphth-1-yl azide | journal = The Biochemical Journal | volume = 191 | issue = 2 | pages = 429–36 | date = Nov 1980 | pmid = 7236204 | pmc = 1162233 | doi =  10.1042/bj1910429}}
* {{cite journal | vauthors = Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA | title = cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed | journal = Biochemical and Biophysical Research Communications | volume = 253 | issue = 2 | pages = 415–22 | date = Dec 1998 | pmid = 9878551 | doi = 10.1006/bbrc.1998.9786 }}
* {{cite journal | vauthors = Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z | title = Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells | journal = Genome Research | volume = 10 | issue = 10 | pages = 1546–60 | date = Oct 2000 | pmid = 11042152 | pmc = 310934 | doi = 10.1101/gr.140200 }}
* {{cite journal | vauthors = Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A | title = Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency | journal = American Journal of Human Genetics | volume = 68 | issue = 6 | pages = 1344–52 | date = Jun 2001 | pmid = 11349233 | pmc = 1226121 | doi = 10.1086/320603 }}
* {{cite journal | vauthors = Vogel RO, Dieteren CE, van den Heuvel LP, Willems PH, Smeitink JA, Koopman WJ, Nijtmans LG | title = Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits | journal = The Journal of Biological Chemistry | volume = 282 | issue = 10 | pages = 7582–90 | date = Mar 2007 | pmid = 17209039 | doi = 10.1074/jbc.M609410200 }}
{{refend}}
{{refend}}


{{protein-stub}}
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{{WikiDoc Sources}}
 
[[Category:Human proteins]]

Revision as of 12:46, 5 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6, also known as complex I-B17, is a protein that in humans is encoded by the NDUFB6 gene.[1][2][3] NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 6, is an accessory subunit of the NADH dehydrogenase (ubiquinone) complex, located in the mitochondrial inner membrane. It is also known as Complex I and is the largest of the five complexes of the electron transport chain.[4]

Gene

The NDUFB6 gene is located on the p arm of chromosome 9 in position 21.1 and is 19,659 base pairs long.[5][6]

Structure

The NDUFB6 protein weighs 17 kDa and is composed of 128 amino acids.[5][6] NDUFB6 is a subunit of the enzyme NADH dehydrogenase (ubiquinone), the largest of the respiratory complexes. The structure is L-shaped with a long, hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm that includes all the known redox centers and the NADH binding site.[4] It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of Complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the NADH dehydrogenase (ubiquinone) complex at the inner mitochondrial membrane.[3]

Function

The protein encoded by this gene is an accessory subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I) that is not directly involved in catalysis.[3] However, NDUFB6 is required for electron transfer activity.[7] Mammalian complex I is composed of 44 different subunits. It locates at the mitochondrial inner membrane. This protein complex has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.[3] Initially, NADH binds to Complex I and transfers two electrons to the isoalloxazine ring of the flavin mononucleotide (FMN) prosthetic arm to form FMNH2. The electrons are transferred through a series of iron-sulfur (Fe-S) clusters in the prosthetic arm and finally to coenzyme Q10 (CoQ), which is reduced to ubiquinol (CoQH2). The flow of electrons changes the redox state of the protein, resulting in a conformational change and pK shift of the ionizable side chain, which pumps four hydrogen ions out of the mitochondrial matrix.[4]

Clinical significance

Decreased expression of genes involved in oxidative phosphorylation, including NDUFB6, is associated with insulin resistance and type 2 diabetes. A polymorphism in the promoter region of the NDFUB6 gene resulting in an adenine to guanine shift at rs629566 was shown to create a DNA methylation site that is associated with a decline in NDUFB6 expression in muscle of aging patients.[8]

References

  1. Emahazion T, Beskow A, Gyllensten U, Brookes AJ (Nov 1998). "Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain". Cytogenetics and Cell Genetics. 82 (1–2): 115–9. doi:10.1159/000015082. PMID 9763677.
  2. Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, van den Heuvel L (Aug 1998). "Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I". Human Genetics. 103 (2): 245–50. doi:10.1007/s004390050813. PMID 9760212.
  3. 3.0 3.1 3.2 3.3 "Entrez Gene: NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa".
  4. 4.0 4.1 4.2 Voet D, Voet JG, Pratt CW (2013). "Chapter 18". Fundamentals of biochemistry: life at the molecular level (4th ed.). Hoboken, NJ: Wiley. pp. 581–620. ISBN 978-0-470-54784-7.
  5. 5.0 5.1 Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  6. 6.0 6.1 "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  7. Loublier S, Bayot A, Rak M, El-Khoury R, Bénit P, Rustin P (Oct 2011). "The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: a proof of principle study on stable and controlled RNA interference in human cell lines". Biochemical and Biophysical Research Communications. 414 (2): 367–72. doi:10.1016/j.bbrc.2011.09.078. PMID 21964293.
  8. Ling C, Poulsen P, Simonsson S, Rönn T, Holmkvist J, Almgren P, Hagert P, Nilsson E, Mabey AG, Nilsson P, Vaag A, Groop L (Nov 2007). "Genetic and epigenetic factors are associated with expression of respiratory chain component NDUFB6 in human skeletal muscle". The Journal of Clinical Investigation. 117 (11): 3427–35. doi:10.1172/JCI30938. PMC 2030455. PMID 17948130.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.