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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667226/ https://www.ncbi.nlm.nih.gov/pubmed/33215027 http://dx.doi.org/10.5223/pghn.2020.23.6.558 |