Article
Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease.
BMC genomics - 12 Dec 2022
Yu Wen-Kai, Wang Yun-Chao, Gao Yuan, Shi Chang-He, Fan Yu, Yu Lu-Lu, Zhao Zi-Chen, Li Shan-Shan, Xu Yu-Ming, Li Yu-Sheng
Abstract excerpt
BACKGROUND: A loss-of-function mutation in ATPase phospholipid transporting 11-B (putative) (ATP11B) gene causing cerebral small vessel disease (SVD) in vivo, and a single intronic nucleotide polymorphism in ATP11B: rs148771930 that was associated with white matter hyperintensities burden in European patients with SVD, was recently identified. Our results suggest that ATP11B may not play an essential role in SVD...
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