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 ; Betz, Regina C.
; 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 ; Betz, Regina C. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
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.
Date of publication of this fulltext: 19 Dec 2024 08:15
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| 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 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| 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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