Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Article

Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter , Wenzel, Jörg , Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina , Bygum, Anette , Altmüller, Janine, Rütten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nürnberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C. (2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. The American Journal of Human Genetics 94 (1), pp. 135-143.

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Details

Item type	Article
Journal or Publication Title	The American Journal of Human Genetics
Publisher	CELL PRESS
Place of Publication	CAMBRIDGE
Volume	94
Number of Issue or Book Chapter	1
Page Range	pp. 135-143
Date	2014
Date of publication	19 Dec 2024 08:15
Institutions	Medicine > Lehrstuhl für Humangenetik
Identification Number	Value Type 10.1016/j.ajhg.2013.12.003 DOI
Keywords	GALLI-GALLI-DISEASE; PHAGE BETA-GLUCOSYLTRANSFERASE; NOTCH SIGNALING PATHWAY; ACANTHOLYTIC VARIANT; ALAGILLE-SYNDROME; KERATIN-5; GENE; DIFFERENTIATION; FAMILY; CELLS;
Dewey Decimal Classification	600 Technology > 610 Medical sciences Medicine
Status	Published
Refereed	Yes, this version has been refereed
Created at the University of Regensburg	Yes
Item ID	61804

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