Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Crigler-Najjar (CN) disease is classified into two subtypes, type I and II. The molecular basis for the difference between these types is not well understood. Several mutations in the bilirubin UDP-glucuronosyl-transferase (B-UGT) gene of six CN type I and two CN type II patients were identified. Re...

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Pubblicato in:	J Clin Invest
Autori principali:	Seppen, J, Bosma, P J, Goldhoorn, B G, Bakker, C T, Chowdhury, J R, Chowdhury, N R, Jansen, P L, Oude Elferink, R P
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1994
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC330068/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7989595/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117604
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