Literature DB >> 16290310

A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.

Ching-Wan Lam1, Ka-Ming Cheung, Man-Shan Tsui, Matthew Shu-Ching Yan, Ching-Yin Lee, Sui-Fan Tong.   

Abstract

We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2.

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Year:  2005        PMID： 16290310     DOI： 10.1016/j.jhep.2005.09.013

Source DB:  PubMed          Journal:  J Hepatol        ISSN： 0168-8278            Impact factor:   25.083


  11 in total

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Review 5.  Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.

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Review 7.  Bile formation and secretion.

Authors:  James L Boyer
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8.  Ursodeoxycholic acid stabilizes the bile salt export pump in the apical membrane in MDCK II cells.

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Journal:  J Gastroenterol       Date:  2013-05-31       Impact factor: 7.527

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

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Journal:  World J Gastroenterol       Date:  2012-11-28       Impact factor: 5.742

10.  Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

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Journal:  PLoS One       Date:  2015-12-17       Impact factor: 3.240
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