Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease-Reference-Cited by-同舟云学术

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

Published:2017-02-15 Issue:4 Volume:38 Page:343-356
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nellen Ruud G.L.¹²,Steijlen Peter M.¹²,van Steensel Maurice A.M.¹²³,Vreeburg Maaike³,Frank Jorge⁴,van Geel Michel¹²³,

Affiliation:

1. Departments of Dermatology; Maastricht University Medical Centre; Maastricht The Netherlands

2. GROW Research School for Oncology and Developmental Biology; Maastricht University Medical Centre; Maastricht The Netherlands

3. Clinical Genetics; Maastricht University Medical Centre; Maastricht The Netherlands

4. Department of Dermatology, Venereology and Allergology; University Medical Center Göttingen; Göttingen Germany

Funder

Skin Research Institute of Singapore

Tenovus Scotland

Dystrophic Epidermolysis Bullosa Research Association

Procter and Gamble

University of Dundee

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23164/fullpdf

Reference108 articles.

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5. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores;Behne;J Invest Dermatol,2003

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