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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove
2023
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| Materias: | |
| 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 |