Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura

Autor:	Roland Kruse, Regina C. Betz, Jorge Frank, Sandra Hanneken, Arno Rütten, Susanne Pulimood, J. Fischer, Gilles G. Lestringant, Sabrina Wolf, Sumita Danda, Holger Thiele, Divya Pachat, Maria Wehner, Günter Fritz, F. Buket Basmanav, Janine Altmüller, Sabine Hoffjan, Anette Bygum
Rok vydání:	2015
Předmět:	Adult Dowling-Degos Disease Skin Diseases Papulosquamous Reticulate acropigmentation of Kitamura Dermatology Biology Biochemistry 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Hyperpigmentation Humans Molecular Biology 030304 developmental biology Genetics Skin Diseases Papulosquamous/genetics 0303 health sciences Skin Diseases Genetic Fucosyltransferases/genetics Cell Biology Middle Aged Fucosyltransferases Pathogenicity 3. Good health Hyperpigmentation/genetics Skin Diseases Genetic/genetics Mutation Mutation (genetic algorithm)
Zdroj:	Basmanav, F B, Fritz, G, Lestringant, G G, Pachat, D, Hoffjan, S, Fischer, J, Wehner, M, Wolf, S, Thiele, H, Altmüller, J, Pulimood, S A, Rütten, A, Kruse, R, Hanneken, S, Frank, J, Danda, S, Bygum, A & Betz, R C 2015, ' Pathogenicity of POFUT1 in Dowling-Degos Disease : Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura ', Journal of Investigative Dermatology, vol. 135, no. 2, pp. 615-618 . https://doi.org/10.1038/jid.2014.406
ISSN:	0022-202X
DOI:	10.1038/jid.2014.406
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f001d15b7645fd0513c39f8728dd9b https://doi.org/10.1038/jid.2014.406 Zobrazit plný text záznamu