Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6-Reference-Cited by-同舟云学术

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Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6

Published:2009-12 Issue:12 Volume:11 Page:852-858
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Plomp Astrid S.,Bergen Arthur A.B.,Florijn Ralph J.,Terry Sharon F.,Toonstra Johan,van Dijk Marijke R.,de Jong Paulus T.V.M.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference39 articles.

1. Angioid streaks and associated diseases;Gass,1997

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4. Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype;Journal of Clinical Medicine;2023-01-29

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