Indel in the FIC1/ATP8B1 gene - a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F04%3A00002100" target="_blank" >RIV/00216208:11150/04:00002100 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Indel in the FIC1/ATP8B1 gene - a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

Original language description

Benign recurrent intrahepatic cholestasis (BRIC) is a rare inherited liver disease characterized by recurrent attacts of severe cholestasis with no progression to end stage liver disease. Three mutations in BRIC have been reposted so far. A novel rare type insertion-deletion mutation, also called indel formation was found in exon 24 of ATP8B1 in our patient.

Czech name

Změna v FIC1/ATP8B1 genu - nový vzácný typ mutace spojený s benigní rekurentní intrahepatální cholestázou

Czech description

Benigní rekurentní intrahepatální cholestáza (BRIC) je vzácné vrozené onemocnění jater charakterizované atakami těžké cholestázy bez poškození jaterního parenchymu. Doposud jsou známy 3 mutace genu pro BRIC. Referujeme o nové mutaci na 24. exonu ATP8B1 unašeho nemocného.

Type

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

CEP classification

FE - Other fields of internal medicine

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2004

Confidentiality

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

Name of the periodical

Hepatology Research

ISSN

1386-6346

e-ISSN

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Volume of the periodical

30

Issue of the periodical within the volume

1

Country of publishing house

IE - IRELAND

Number of pages

3

Pages from-to

1-3

UT code for WoS article

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EID of the result in the Scopus database

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