Mutations of ATP2C1 in Japanese Patients with Hailey–Hailey Disease: Intrafamilial and Interfamilial Phenotype Variations and Lack of Correlation with Mutation Patterns
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference9 articles.
1. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12;Bonifas;J Invest Dermatol,1992
2. Hailey-Hailey disease: the clinical features, response to treatment and prognosis;Burge;Br J Dermatol,1992
3. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa;Christiano;Hum Mutat,1997
4. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease;Hu;Nat Genet,2000
5. Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q;Ikeda;Hum Mol Genet,1994
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