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Article

Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.

World journal of gastroenterology - 28 Nov 2012

Deng Bao-Cheng, Lv Sa, Cui Wei, Zhao Rui, Lu Xu, Wu Jian, Liu Pei

Abstract excerpt

Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation in ATP8B1. We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for thirteen years, in addition to cholestasis that eventually became fatal. Genetic sequencing studies of the entire coding (exon)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23197899
DOI: 10.3748/wjg.v18.i44.6504
PMCID: PMC3508648

Genes

ABCB11

Variants

Provenance

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