Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

BACKGROUND: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disease caused by pathogenic variants of the gene ABCB4. This study aimed to investigate the ABCB4 genotypic and the clinical phenotypic features of PFIC3 patients. METHODS: The clinical and molecular...

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Autores principales: Chen, Rong, Yang, Feng-Xia, Tan, Yan-Fang, Deng, Mei, Li, Hua, Xu, Yi, Ouyang, Wen-Xian, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9773540/
https://www.ncbi.nlm.nih.gov/pubmed/36550572
http://dx.doi.org/10.1186/s13023-022-02597-y

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