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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:J Clin Invest
Autores principales: Ritter, J K, Yeatman, M T, Ferreira, P, Owens, I S
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 1992
Materias:
Research Article
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares