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Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II

PURPOSE: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean childre...

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Detalles Bibliográficos
Autores principales: Ko, Jae Sung, Chang, Ju Young, Moon, Jin Soo, Yang, Hye Ran, Seo, Jeong Kee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990781/
https://www.ncbi.nlm.nih.gov/pubmed/24749086
http://dx.doi.org/10.5223/pghn.2014.17.1.37