Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.

Crigler-Najjar syndrome type 1 (CN-1) is a recessively inherited, potentially lethal disorder characterized by severe unconjugated hyperbilirubinemia resulting from deficiency of the hepatic enzyme bilirubin-UDP-glucuronosyltransferase. In all CN-1 patients studied, structural mutations in one of th...

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Detalhes bibliográficos
Main Authors: Gantla, S, Bakker, C T, Deocharan, B, Thummala, N R, Zweiner, J, Sinaasappel, M, Roy Chowdhury, J, Bosma, P J, Roy Chowdhury, N
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376950/
https://ncbi.nlm.nih.gov/pubmed/9497253
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