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Article

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

BMC gastroenterology - 4 Jul 2018

Sharma Anjali, Poddar Ujjal, Agnihotry Shikha, Phadke Shubha R, Yachha Surender K, Aggarwal Rakesh

Abstract excerpt

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 phenotype. The variations identified were looked for in parents, 30 healthy persons and several variation databases,...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29973134
DOI: 10.1186/s12876-018-0835-6
PMCID: PMC6032793

Genes

ABCB11
ABCB4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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