Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa-Reference-Cited by-同舟云学术

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

Published:2017-03-13 Issue:4 Volume:127 Page:1485-1490
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

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^ORCID,Betz Regina C.

Publisher

American Society for Clinical Investigation

Subject

General Medicine

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4. Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

5. Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

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