An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F11%3A00051989" target="_blank" >RIV/00216224:14740/11:00051989 - isvavai.cz</a>

Alternative codes found

RIV/00209775:_____/11:#0000218 RIV/65269705:_____/11:#0001345 RIV/00159816:_____/11:#0000603

Result on the web

<a href="http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023" target="_blank" >http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023" target="_blank" >10.1016/j.atherosclerosis.2011.01.023</a>

Result language

angličtina

Original language name

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia

Original language description

The aim of this study was, on the basis of data obtained by the molecular genetic analysis of 1945 Czech FH probands, to propose, generate, and validate a new diagnostic tool, an APEX (Arrayed Primer EXtension)-based genotyping DNA microarray called theFH chip.The FH chip contains the APOB mutation p.Arg3527Gln, all 89 LDLR point mutations and small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations. This FH chip is a rapid, reproducible, specific, and cost-effective tool for genotyping, and in combination with MLPA (multiple ligation-dependent probe amplification) represents a reliable molecular genetic protocol for the large-scale screening of FH mutations in the Czech population.

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

<a href="/en/project/2B08060" target="_blank" >2B08060: Development of diagnostics and treatment of serious heart and vascular diseases using genomic and proteomic approaches</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2011

Confidentiality

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

Name of the periodical

Atherosclerosis

ISSN

0021-9150

e-ISSN

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Volume of the periodical

216

Issue of the periodical within the volume

1

Country of publishing house

IE - IRELAND

Number of pages

7

Pages from-to

139-145

UT code for WoS article

000290205800022

EID of the result in the Scopus database

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