Novel Mutation in ATP2C1 Gene in a Japanese Patient with Hailey-Hailey Disease
Author:
Publisher
S. Karger AG
Subject
Dermatology
Reference12 articles.
1. FAMILIAL BENIGN CHRONIC PEMPHIGUS
2. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
3. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
4. Mutations of ATP2C1 in Japanese Patients with Hailey–Hailey Disease: Intrafamilial and Interfamilial Phenotype Variations and Lack of Correlation with Mutation Patterns
5. Analysis of ATP2C1 Gene Mutation in 10 Unrelated Japanese Families with Hailey–Hailey Disease
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1. ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking;Cell Death & Disease;2016-06
2. Basic Principles of Genetics and Gene Therapy;Therapy of Skin Diseases;2010
3. Molecular and clinical characterization in Japanese and Korean patients with Hailey–Hailey disease: Six new mutations in the ATP2C1 gene;Journal of Dermatological Science;2008-07
4. Genetic diagnosis in a Chinese Hailey–Hailey disease pedigree with novel ATP2C1 gene mutation;Archives of Dermatological Research;2008-02-08
5. Eight Novel Mutations of ATP2C1 Identified in 17 Chinese Families with Hailey-Hailey Disease;Dermatology;2007
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