Associated Papers
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders.
Vodo D et al.
The British Journal of Dermatology, 2018
Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population.
Xu K et al.
Medical Science Monitor Basic Research, 2017
The role of the ATP2C1 gene in Hailey-Hailey disease.
Deng H et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.
Meng L et al.
Genetics and Molecular Research : Gmr, 2015
A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?
van Beek N et al.
Plos One, 2015
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.
Zhang HZ et al.
Clinical and Experimental Dermatology, 2012
ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.
Majore S et al.
The Journal of Investigative Dermatology, 2005
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