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Article

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.

Hepatology (Baltimore, Md.) - 1 Feb 2009

Byrne Jane A, Strautnieks Sandra S, Ihrke Gudrun, Pagani Franco, Knisely A S, Linton Kenneth J, Mieli-Vergani Giorgina, Thompson Richard J

Abstract excerpt

UNLABELLED: The gene encoding the human bile salt export pump (BSEP), ABCB11, is mutated in several forms of intrahepatic cholestasis. Here we classified the majority (63) of known ABCB11 missense mutations and 21 single-nucleotide polymorphisms (SNPs) to determine whether they caused abnormal ABCB11 pre-messenger RNA splicing, abnormal processing of BSEP protein, or alterations in BSEP protein function. Using an...

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19101985
DOI: 10.1002/hep.22683

Genes

ABCB11

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