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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2008
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2254972/
https://ncbi.nlm.nih.gov/pubmed/18253096
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