Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.

Patients with Crigler-Najjar syndrome (CN) type I inherit an autosomal recessive trait for hyperbilirubinemia, which is characterized by the total absence of bilirubin UDP-glucuronosyltransferase (transferase) activity. The recent identification of two bilirubin transferase isoforms with identical c...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Ritter, J K, Yeatman, M T, Ferreira, P, Owens, I S
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443074/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1634606/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115829
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