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Article

Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.

Journal of gastroenterology and hepatology - 1 Mar 2013

Copeland Emily, Renault Nisa, Renault Marc, Dyack Sarah, Bulman Dennis E, Bedard Karen, Otley Anthony, Magee Fergall, Acott Philip, Greer Wenda L

Abstract excerpt

BACKGROUND AND AIM: Our objective was to identify the molecular genetic basis of an Alagille-like condition not linked to JAG1 or NOTCH2 in two related sibships. METHODS: Because of common ancestry, and an autosomal recessive mode of inheritance, it was hypothesized that all affected and no unaffected individuals would be homozygous for the same haplotype in the region of the causative gene. Single nucleotide...

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Topics

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Share to Adenosine Triphosphatases
Share to Cholestasis, Intrahepatic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genotyping Techniques

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Source

Identifiers

PMID: 23033845
DOI: 10.1111/j.1440-1746.2012.07290.x

Genes

JAG1
NOTCH2

Provenance

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