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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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| Gepubliceerd in: | JGH Open |
|---|---|
| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wiley Publishing Asia Pty Ltd
2020
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| Onderwerpen: | |
| Online toegang: | 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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