Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review

BACKGROUND: Hailey–Hailey disease (HHD; OMIM: 169600) is an autosomal dominate genodermatosis, characterized by recurrent blisters and erosions clinically and remarkable acantholysis pathologically. The underlying pathogenic factor is the mutation of ATP2C1 gene (OMIM: 604384), which encodes secreto...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Yang, Lu, Zhang, Qianli, Zhang, Shiyu, Liu, Yuehua, Liu, Yaping, Wang, Tao
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077163/
https://ncbi.nlm.nih.gov/pubmed/33345454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1580
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