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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| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Wiley
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/566f092f5c7547c2ae4b6f215821f301 |
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