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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...

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Pubblicato in:JGH Open
Autori principali: Xiong, Qing‐Fang, Zhou, Hui, Yang, Yong‐Feng
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley Publishing Asia Pty Ltd 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7578310/
https://ncbi.nlm.nih.gov/pubmed/33102778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jgh3.12355
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