Whole exome sequencing improves mutation detection in Hailey–Hailey disease
Author:
Affiliation:
1. Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University & Shandong Academy of Medical Sciences Jinan China
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15828
Reference13 articles.
1. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
2. Review of 52 cases with Hailey–Hailey disease identified 25 novel mutations in Chinese Han population
3. 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
4. Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese
5. Molecular and clinical characterization in Japanese and Korean patients with Hailey–Hailey disease: Six new mutations in the ATP2C1 gene
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