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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Dades bibliogràfiques
Publicat a:J Invest Dermatol
Autors principals: Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Original Article
Accés en línia: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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