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...

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Опубликовано в: :J Invest Dermatol
Главные авторы: Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2015
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Original Article
Online-ссылка: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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