Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound...

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Detalles Bibliográficos
Autores principales: Rhee, Eun Sang, Kim, Yu Bin, Lee, Sunghee, Oh, Seak Hee, Lee, Beom Hee, Kim, Kyung Mo, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751104/
https://www.ncbi.nlm.nih.gov/pubmed/31555573
http://dx.doi.org/10.5223/pghn.2019.22.5.479

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