The Pathogenic Mechanism of the ATP2C1 p.Ala109_Gln120del Mutation in Hailey–Hailey Disease

BACKGROUND: Hailey–Hailey disease (HHD) is an autosomal dominant cutaneous disorder that manifests as repeated blisters and erosions on flexural or intertriginous skin areas. The calcium-transporting ATPase type 2C member 1 gene (ATP2C1) encodes the secretory pathway Ca(2+)/Mn(2+)-ATPase 1 (SPCA1),...

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Detalles Bibliográficos
Autores principales: Li, Peiyao, Qi, Jialin, Zhou, Baishun, Ding, Ting, Long, Juan, Xiao, Heng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569160/
https://www.ncbi.nlm.nih.gov/pubmed/36254249
http://dx.doi.org/10.2147/CCID.S384443

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