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@article{930406,
author = {Dušková, Lucie and Kopečková, Lenka and Jansová, Eva and Tichý, Lukáš and Freiberger, Tomáš and Zapletalová, Petra and Soška, Vladimír and Ravčuková, Barbora and Fajkusová, Lenka},
article_location = {Irsko},
article_number = {1},
doi = {http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023},
keywords = {Familial hypercholesterolemia; LDLR gene; Microarray; APEX reaction},
language = {eng},
issn = {0021-9150},
journal = {Atherosclerosis},
title = {An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia},
volume = {216},
year = {2011}
}
TY - JOUR
ID - 930406
AU - Dušková, Lucie - Kopečková, Lenka - Jansová, Eva - Tichý, Lukáš - Freiberger, Tomáš - Zapletalová, Petra - Soška, Vladimír - Ravčuková, Barbora - Fajkusová, Lenka
PY - 2011
TI - An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
JF - Atherosclerosis
VL - 216
IS - 1
SP - 139-145
EP - 139-145
PB - ELSEVIER SCI IRELAND LTD
SN - 00219150
KW - Familial hypercholesterolemia
KW - LDLR gene
KW - Microarray
KW - APEX reaction
N2 - 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 the FH 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.
ER -
DUŠKOVÁ, Lucie, Lenka KOPEČKOVÁ, Eva JANSOVÁ, Lukáš TICHÝ, Tomáš FREIBERGER, Petra ZAPLETALOVÁ, Vladimír SOŠKA, Barbora RAVČUKOVÁ a Lenka FAJKUSOVÁ. An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. \textit{Atherosclerosis}. Irsko: ELSEVIER SCI IRELAND LTD, 2011, roč.~216, č.~1, s.~139-145. ISSN~0021-9150. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023.
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