Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ATP8B1, ABCB11 or ABCB4 genes. Data on genetic variations in Indian patients with PFIC are lacking. METHODS: Coding and splice regions of the three genes were sequenced in unrelated Indian children with PFIC...

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Detalles Bibliográficos
Autores principales: Sharma, Anjali, Poddar, Ujjal, Agnihotry, Shikha, Phadke, Shubha R., Yachha, Surender K., Aggarwal, Rakesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032793/
https://www.ncbi.nlm.nih.gov/pubmed/29973134
http://dx.doi.org/10.1186/s12876-018-0835-6

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