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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Bibliographische Detailangaben
Hauptverfasser: Ritter, J K, Yeatman, M T, Ferreira, P, Owens, I S
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1992
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC443074/
https://ncbi.nlm.nih.gov/pubmed/1634606
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