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

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 SEMA7A (R148W...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573601/
https://www.ncbi.nlm.nih.gov/pubmed/34585848
http://dx.doi.org/10.15252/emmm.202114563

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