Pseudoxanthoma elasticum causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]

Overview

80% of clinical cases of pseudoxanthoma elasticum have detectable mutations in the ABCC6 gene.[1][2][3][4]

References

  1. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J (2000). "Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter". Proc. Natl. Acad. Sci. U.S.A. 97 (11): 6001–6. doi:10.1073/pnas.100041297. PMID 10811882.
  2. Bergen AA, Plomp AS, Schuurman EJ; et al. (2000). "Mutations in ABCC6 cause pseudoxanthoma elasticum". Nat. Genet. 25 (2): 228–31. doi:10.1038/76109. PMID 10835643.
  3. Le Saux O, Urban Z, Tschuch C; et al. (2000). "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum". Nat. Genet. 25 (2): 223–7. doi:10.1038/76102. PMID 10835642.
  4. Struk B, Cai L, Zäch S; et al. (2000). "Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum". J. Mol. Med. 78 (5): 282–6. PMID 10954200.


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