Article
Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease.
BMC medical genetics - 1 Jun 2020
Li Xiaoli, Zhang Dingwei, Ding Jiahui, Li Li, Wang Zhenghui
Abstract excerpt
BACKGROUND: Familial benign chronic pemphigus, also known as Hailey-Hailey disease (HHD), is a clinically rare bullous Dermatosis. However the mechanism has not been clarified. The study aim to detect novel mutations in exons of ATP2C1 gene in HHD patients; to explore the possible mechnism of HHD pathogenesis by examining the expression profile of hSPCA1, miR-203, p63, Notch1 and HKII proteins in the skin lesions...
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