Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2-Reference-Cited by-同舟云学术

Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2

Published:2015-09-09 Issue:5 Volume:24 Page:704-709
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Slachtova Lenka,Seda Ondrej,Behunova Jana,Mistrik Martin,Martasek Pavel

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015181.pdf

Reference37 articles.

1. Dubin I, Johnson FB : Chronic idiopathic jaundice with unidentified pigment in liver cells: a new clinicopathologic entity with report of 12 cases. Medicine 1954; 33: 155.

2. Kitamura T, Hardenbrook C, Kamimoto Y et al: Defective ATP-dependent bile canalicular transport of organic anions in mutant (TR2) rats with conjugated hyperbilirubinemia. Proc Natl Acad Sci USA 1990; 87: 3557–3561.

3. Mor-Cohen R, Zivelin A, Rosenberg N et al: Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. J Biol Chem 2001; 276: 36923–36930.

4. Keitel V, Nies AT, Brom M et al: A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). Am J Physiol Gastrointest Liver Physiol 2003; 284: G165–G174.

5. Elferink O, Ottenhoff R, Liefting WG et al: ATP-dependent efflux of GSSG and GS-conjugate from isolated rat hepatocytes. Am J Physiol 1990; 258: G669–G706.

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