Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a hepatic disorder occurring predominantly in childhood and is difficult to diagnose. PFIC3, being a rare autosomal recessive disease, is caused by genetic mutations in both alleles of ABCB4, resulting in the disruption of the bile secr...

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Detalles Bibliográficos
Autores principales: Saleem, Komal, Cui, Qingbo, Zaib, Tahir, Zhu, Siqi, Qin, Qian, Wang, Yusi, Dam, Jinxi, Ji, Wei, Liu, Peng, Jia, Xueyuan, Wu, Jie, Bai, Jing, Fu, Songbin, Sun, Wenjing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315263/
https://www.ncbi.nlm.nih.gov/pubmed/32626542
http://dx.doi.org/10.1155/2020/6292818

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