Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura

Autor:	Regina C. Betz, Jorge Frank, Holger Thiele, A. Du-Thanh, P Kokordelis, Peter Nürnberg, Janine Altmüller, Günter Fritz, Gilles G. Lestringant, F.B.Ünalan Basmanav, J. Fischer, Damian J. Ralser, Vinzenz Oji, Sabrina Wolf
Přispěvatelé:	Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier )
Rok vydání:	2017
Předmět:	Male 0301 basic medicine Skin Diseases Papulosquamous Reticulate acropigmentation of Kitamura Mutation Missense Haploinsufficiency Dermatology Biology ADAM10 Protein 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine INDEL Mutation Hyperpigmentation Humans Frameshift Mutation ComputingMilieux_MISCELLANEOUS Genetics Membrane Proteins Skin Diseases Genetic 030104 developmental biology Codon Nonsense Mutation Mutation (genetic algorithm) Female Amyloid Precursor Protein Secretases [ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatology
Zdroj:	British Journal of Dermatology British Journal of Dermatology, Wiley, 2017, 177 (6), pp.e340-e343. 〈10.1111/bjd.16024〉
ISSN:	0007-0963 1365-2133
DOI:	10.1111/bjd.16024
Popis:	International audience
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e2d892b392041ff4f0cbd160224470 https://doi.org/10.1111/bjd.16024 Zobrazit plný text záznamu Plný text