Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F01%3A00024522" target="_blank" >RIV/00216224:14110/01:00024522 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/02:00039979

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients.

Original language description

The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for thispurpose. Molecular searching in the promoter region and coding sequence of the low density lipoprotein receptor (LDLR) gene in 130 patients from 68 unrelated families resulted in the identification of 37 sequence variations. Thirty of them are most likely disease causing mutations. Nineteen mutations were novel (two nonsense, five missense, six nucleotide(s) insertions and six nucleotide(s) deletions). Their pathological effect can be predicted on the basis of their position with respect to previouslyreported mutations with an estimated reduction of the receptor activity and/or premature termination of translation. These results expand our knowledge of mutations responsible for FH. Seven nucleotide variations were characterized as sil

Czech name

Spektrum mutací v genu LDLR u českých pacientů s hypercholesterolémií.

Czech description

V práci jsou charakterizovány mutace v genu pro LDL receptor v souboru 130 pacientů s familiární hypercholesterolémií z 68 českých nepříbuzných rodin.

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

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2001

Confidentiality

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

Name of the periodical

Human Mutation

ISSN

1059-7794

e-ISSN

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Volume of the periodical

18

Issue of the periodical within the volume

3

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

3

Pages from-to

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UT code for WoS article

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EID of the result in the Scopus database

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