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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
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 |