Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis

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Veröffentlicht in:Journal of investigative dermatology Jg. 139; H. 4; S. 960
Hauptverfasser: Ralser, Damian J, Takeuchi, Hideyuki, Fritz, Günter, Basmanav, F Buket, Effern, Maike, Sivalingam, Sugirthan, El-Shabrawi-Caelen, Laila, Degirmentepe, Ece N, Kocatürk, Emek, Singh, Manuraj, Booken, Nina, Spierings, Natalia M K, Schnabel, Viktor, Heineke, Andre, Knuever, Jana, Wolf, Sabrina, Wehner, Maria, Tronnier, Michael, Leverkus, Martin, Tantcheva-Poór, Iliana, Wenzel, Jörg, Oji, Vinzenz, Has, Cristina, Hölzel, Michael, Frank, Jorge, Haltiwanger, Robert S, Betz, Regina C
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States 01.04.2019
Schlagworte:
Disease Progression
DNA Mutational Analysis
Female
Glucosyltransferases - genetics
Glucosyltransferases - metabolism
Humans
Hyperpigmentation - genetics
Hyperpigmentation - metabolism
Male
Mutation
Signal Transduction
Skin Diseases, Genetic - genetics
Skin Diseases, Genetic - metabolism
Skin Diseases, Papulosquamous - genetics
Skin Diseases, Papulosquamous - metabolism
ISSN:1523-1747, 1523-1747
Online-Zugang:Weitere Angaben
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Bibliographie:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Correspondence-1
content type line 23
ISSN:1523-1747
1523-1747
DOI:10.1016/j.jid.2018.10.030