ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10285454" target="_blank" >RIV/00216208:11110/14:10285454 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/14:10285454 RIV/00216208:11120/14:43908529 RIV/00064173:_____/14:#0000428 RIV/00064203:_____/14:10285454 and 2 more

Result on the web

<a href="http://dx.doi.org/10.3748/wjg.v20.i19.5867" target="_blank" >http://dx.doi.org/10.3748/wjg.v20.i19.5867</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3748/wjg.v20.i19.5867" target="_blank" >10.3748/wjg.v20.i19.5867</a>

Result language

angličtina

Original language name

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones

Original language description

AIM: To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency. METHODS: Mutational analysis ofABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c. 1331T > C of ABCB11 and genotyping for variation c. 55G > C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families(5 probands, 15 additional family members). The probands came to medical attention for contraceptive-associated intrahepatic cholestasis. RESULTS: A possibly pathogenic variant of ABCB4 was found only in one of the 35 pediatric subjects w

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

World Journal of Gastroenterology

ISSN

1007-9327

e-ISSN

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Volume of the periodical

20

Issue of the periodical within the volume

19

Country of publishing house

CN - CHINA

Number of pages

8

Pages from-to

5867-5874

UT code for WoS article

000336048200032

EID of the result in the Scopus database

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