A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis

A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis

Abstract 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 SEMA...

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Bibliographic Details
Main Authors: Qiong Pan, Gang Luo, Jiaquan Qu, Sheng Chen, Xiaoxun Zhang, Nan Zhao, Jingjing Ding, Hong Yang, Mingqiao Li, Ling Li, Ying Cheng, Xuan Li, Qiaoling Xie, Qiao Li, Xueqian Zhou, Huiling Zou, Shijun Fan, Lingyun Zou, Wei Liu, Guohong Deng, Shi‐Ying Cai, James L Boyer, Jin Chai
Format: Article
Language:English
Published: Springer Nature 2021-11-01
Series:EMBO Molecular Medicine
Subjects:
bile acid
bile salt export pump
liver injury
progressive familial intrahepatic cholestasis
semaphorin 7A
Online Access:https://doi.org/10.15252/emmm.202114563

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