Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China

PURPOSE: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. METHODS: We collected and analyzed relevant data related to...

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Detalhes bibliográficos
Publicado no:Pediatr Gastroenterol Hepatol Nutr
Main Authors: Zhang, Wen, Lin, Ruizhu, Lu, Zhikun, Sheng, Huiying, Xu, Yi, Li, Xiuzhen, Cheng, Jing, Cai, Yanna, Mao, Xiaojian, Liu, Li
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2020
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667226/
https://ncbi.nlm.nih.gov/pubmed/33215027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2020.23.6.558
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