Pseudoxanthoma elasticum causes: Difference between revisions
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Created page with "__NOTOC__ {{Pseudoxanthoma elasticum}} {{SI}} {{CMG}}; {{AE}} {{AO}} ==Overview== ==Causes== 80% of clinical cases of pseudoxanthoma elasticum have detectable mutations in t..." |
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==Overview== | ==Overview== | ||
80% of clinical cases of pseudoxanthoma elasticum have detectable mutations in the [[ABCC6]] gene.<ref>{{cite journal |author=Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J |title=Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue=11 |pages=6001-6 |year=2000 |pmid=10811882|doi=10.1073/pnas.100041297}}</ref><ref>{{cite journal |author=Bergen AA, Plomp AS, Schuurman EJ, ''et al'' |title=Mutations in ABCC6 cause pseudoxanthoma elasticum |journal=Nat. Genet. |volume=25 |issue=2 |pages=228-31 |year=2000 |pmid=10835643 |doi=10.1038/76109}}</ref><ref name=LeSaux>{{cite journal |author=Le Saux O, Urban Z, Tschuch C, ''et al'' |title=Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum |journal=Nat. Genet. |volume=25 |issue=2 |pages=223-7 |year=2000 |pmid=10835642 |doi=10.1038/76102}}</ref><ref>{{cite journal |author=Struk B, Cai L, Zäch S, ''et al'' |title=Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum |journal=J. Mol. Med. |volume=78 |issue=5 |pages=282-6 |year=2000 |pmid=10954200 |doi=}}</ref> | |||
80% of clinical cases of pseudoxanthoma elasticum have detectable mutations in the [[ABCC6]] gene.<ref>{{cite journal |author=Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J |title=Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue=11 |pages=6001-6 |year=2000 |pmid=10811882|doi=10.1073/pnas.100041297}}</ref><ref>{{cite journal |author=Bergen AA, Plomp AS, Schuurman EJ, ''et al'' |title=Mutations in ABCC6 cause pseudoxanthoma elasticum |journal=Nat. Genet. |volume=25 |issue=2 |pages=228-31 |year=2000 |pmid=10835643 |doi=10.1038/76109}}</ref><ref name=LeSaux>{{cite journal |author=Le Saux O, Urban Z, Tschuch C, ''et al'' |title=Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum |journal=Nat. Genet. |volume=25 |issue=2 |pages=223-7 |year=2000 |pmid=10835642 |doi=10.1038/76102}}</ref><ref>{{cite journal |author=Struk B, Cai L, Zäch S, ''et al'' |title=Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum |journal=J. Mol. Med. |volume=78 |issue=5 |pages=282-6 |year=2000 |pmid=10954200 |doi=}}</ref> | |||
==References== | ==References== | ||
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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
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.