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Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in ATP-binding cassette family C member 6 (ABCC6) but also ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and gamma-glutamyl...

詳細記述

保存先:
書誌詳細
出版年:J Invest Dermatol
主要な著者: Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4378258/
https://ncbi.nlm.nih.gov/pubmed/25264593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2014.421
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