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Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura

Item Type:Letter
Title:Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura
Creators Name:Ralser, D.J. and Lestringant, G.G. and Du-Thanh, A. and Kokordelis, P. and Fischer, J. and Basmanav, F.B.Ü. and Wolf, S. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Oji, V. and Fritz, G. and Frank, J. and Betz, R.C.
Keywords:ADAM10 Protein, Amyloid Precursor Protein Secretases, Frameshift Mutation, Genetic Skin Diseases, Haploinsufficiency, Hyperpigmentation, INDEL Mutation, Membrane Proteins, Missense Mutation, Mutation, Nonsense Codon, Papulosquamous Skin Diseases
Source:British Journal of Dermatology
ISSN:0007-0963
Publisher:Wiley
Volume:177
Number:6
Page Range:e340-e343
Date:8 January 2018
Official Publication:https://doi.org/10.1111/bjd.16024
PubMed:View item in PubMed

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