Analysis of ATP2C1 Gene Mutation in 10 Unrelated Japanese Families with Hailey–Hailey Disease
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference6 articles.
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5. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease;Hu;Nat Genet,2000
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1. Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey‐Hailey disease;Experimental Dermatology;2023-02-23
2. Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients;Molecular Syndromology;2021
3. A Novel Microduplication Spanning Exons 8–16 of ATP2C1 That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey–Hailey Disease;Frontiers in Medicine;2020-09-04
4. The role of the ATP2C1 gene in Hailey–Hailey disease;Cellular and Molecular Life Sciences;2017-05-27
5. 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;Human Mutation;2017-02-15
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