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Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing

PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify unde...

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Detalles Bibliográficos
Autores principales: Lee, Su Jeong, Kim, Jung Eun, Choe, Byung-Ho, Seo, An Na, Bae, Han-Ik, Hwang, Su-Kyeong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517378/
https://www.ncbi.nlm.nih.gov/pubmed/28730136
http://dx.doi.org/10.5223/pghn.2017.20.2.114