Two Novel and a Recurrent ATP2C1 Mutations in Chinese Population with Hailey–Hailey Disease

PURPOSE: Hailey–Hailey disease (HHD), also known as familial benign chronic pemphigus, is a rare autosomal dominant inherited blistering dermatosis. Pathogenic variants in ATP2C1 have been associated with HHD since 2000. This study aimed to identify the mutations in the ATP2C1 gene in two Chinese pe...

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Detalles Bibliográficos
Autores principales: Zhang, Deng, Xiao, Zhen, Ouyang, Xiaoliang, Wang, Xiuping, Zhu, Yunxia, Yu, Simin, Li, Chunming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10278650/
https://www.ncbi.nlm.nih.gov/pubmed/37342538
http://dx.doi.org/10.2147/CCID.S417792

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10278650/
https://www.ncbi.nlm.nih.gov/pubmed/37342538
http://dx.doi.org/10.2147/CCID.S417792

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