Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding pr...

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Vydáno v:J Clin Invest
Hlavní autoři: Ralser, Damian J., Basmanav, F. Buket Ü., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michélle, Pulimood, Susanne A., Altmüller, Janine, Nürnberg, Peter, Lacombe, Didier, Hillen, Uwe, Wenzel, Jörg, Frank, Jorge, Odermatt, Benjamin, Betz, Regina C.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2017
Témata:
Brief Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5373890/
https://ncbi.nlm.nih.gov/pubmed/28287404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI90667
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