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Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey–Hailey disease

✍ Scribed by Dingwei Zhang; Xiaoli Li; Shengxiang Xiao; Jia Huo; Shuang Wang; Pengjun Zhou

Publisher
Springer-Verlag
Year
2011
Tongue
English
Weight
955 KB
Volume
304
Category
Article
ISSN
0340-3696

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## Abstract Autosomal recessive early‐onset Parkinsonism (AREP) has been associated with mutations in the __Parkin__, __PINK1__, __DJ‐1__, and __ATP13A2__ genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and