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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Invest Dermatol
Päätekijät: Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2015
Aiheet:
Original Article
Linkit: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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