Cargando…
p.Cys223Tyr mutation causing Crigler–Najjar syndrome type II
Crigler–Najjar syndrome (CNs) is a rare hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin Uridine (UDP) glucuronosyltransferase family 1 member A1 (UGT1A1, ENSG00000241635) gene. Two patients were clinically diagnosed with Crigler–Najjar Syndrome types II (CNs‐II) can b...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wiley Publishing Asia Pty Ltd
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578310/ https://www.ncbi.nlm.nih.gov/pubmed/33102778 http://dx.doi.org/10.1002/jgh3.12355 |