Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis

BACKGROUND: The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1 (UGT1A1), for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert’s syndrome....

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Detalles Bibliográficos
Autores principales: Zheng, Bixia, Hu, Guorui, Yu, Jin, Liu, Zhifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287334/
https://www.ncbi.nlm.nih.gov/pubmed/25319636
http://dx.doi.org/10.1186/1471-2431-14-267

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