Other formats:
BibTeX
LaTeX
RIS
@inproceedings{751928,
author = {Goldmann, R. and Zapletalova, P. and Letocha, O. and Vyroubalova, L. and Porubkova, J. and Tichy, L. and Freiberger, T. and Kozák, L.},
address = {Praha},
booktitle = {Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy},
keywords = {Familial hyprecholesterolémia; LDLR gene; MLPA},
language = {eng},
location = {Praha},
isbn = {978-80-239-9322-6},
pages = {66-66},
publisher = {Všeobecná fakultní nemocnice v Praze},
title = {Advance in molecular diagnosis of familial hypercholesterolemia in the Czech population: identification and characterization of large rearrangements in LDLR gene},
year = {2007}
}
TY - JOUR
ID - 751928
AU - Goldmann, R. - Zapletalova, P. - Letocha, O. - Vyroubalova, L. - Porubkova, J. - Tichy, L. - Freiberger, T. - Kozák, L.
PY - 2007
TI - Advance in molecular diagnosis of familial hypercholesterolemia in the Czech population: identification and characterization of large rearrangements in LDLR gene
PB - Všeobecná fakultní nemocnice v Praze
CY - Praha
SN - 9788023993226
KW - Familial hyprecholesterolémia
KW - LDLR gene
KW - MLPA
N2 - Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the gene encoding the low density lipoprotein receptor (LDLR). Mutations in the LDLR gene were diagnosed using exon by exon screening methods based on individual exon amplification, DHPLC analysis and sequencing. Recently, a novel method for genomic quantification, Multiplex Ligation-dependent Probe Amplification (MLPA), has been developed. In order to explore the possibility that whole exon deletions or duplications could be the causative mutation on some yet uncharacterized mutant LDLR alleles, we used MLPA technique in this study.Six different large deletions and three duplications were found, 3 of which (EX9_15del-14kb, EX9_14del-9.5kb and EX2_6dup-8.5kb) were prevalent in FH individuals from the Czech population.
ER -
GOLDMANN, R., P. ZAPLETALOVA, O. LETOCHA, L. VYROUBALOVA, J. PORUBKOVA, L. TICHY, T. FREIBERGER and L. KOZÁK. Advance in molecular diagnosis of familial hypercholesterolemia in the Czech population: identification and characterization of large rearrangements in LDLR gene. In \textit{Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy}. Praha: Všeobecná fakultní nemocnice v Praze, 2007, p.~66. ISBN~978-80-239-9322-6.
|
