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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書誌詳細
出版年:J Clin Invest
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 2017
主題:
Brief Report
オンライン･アクセス: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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