ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones

PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, affecting the retina, the skin, and the cardiovascular system. PXE is caused by mutations in ABCC6. Up to now, the literature reports that there are 180 different ABCC6 mutations in PXE. The purpose of t...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Plomp, Astrid S., Florijn, Ralph J., ten Brink, Jacoline, Castle, Bruce, Kingston, Helen, Martín-Santiago, Ana, Gorgels, Theo G.M.F., de Jong, Paulus T.V.M., Bergen, Arthur A.B.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Molecular Vision 2008
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2254972/
https://ncbi.nlm.nih.gov/pubmed/18253096
Tagiau: Ychwanegu Tag
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