Article
A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.
EMBO molecular medicine - 8 Nov 2021
Pan Qiong, Luo Gang, Qu Jiaquan, Chen Sheng, Zhang Xiaoxun, Zhao Nan, Ding Jingjing, Yang Hong, Li Mingqiao, Li Ling, Cheng Ying, Li Xuan, Xie Qiaoling, Li Qiao, Zhou Xueqian, Zou Huiling, Fan Shijun, Zou Lingyun, Liu Wei, Deng Guohong, Cai Shi-Ying, Boyer James L, Chai Jin
Abstract excerpt
Semaphorin 7A (SEMA7A) is a membrane-bound protein that involves axon growth and other biological processes. SEMA7A mutations are associated with vertebral fracture and Kallmann syndrome. Here, we report a case with a mutation in SEMA7A that displays familial cholestasis. WGS reveals a SEMA7AR148W homozygous mutation in a female child with elevated levels of serum ALT, AST, and total bile acid (TBA) of unknown...
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