Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey–Hailey disease
Author:
Affiliation:
1. Department of Dermatology Nippon Medical School Tokyo Japan
2. Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan
3. Department of Dermatology Nippon Medical School Chiba Hokusoh Hospital Chiba Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16353
Reference15 articles.
1. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
2. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
3. ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking
4. Mutations of ATP2C1 in Japanese Patients with Hailey–Hailey Disease: Intrafamilial and Interfamilial Phenotype Variations and Lack of Correlation with Mutation Patterns
5. Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene
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