| KUHROVÁ, Viera, Hana FRANCOVÁ, Petra ZAPLETALOVÁ, Tomáš FREIBERGER, Lenka FAJKUSOVÁ, Eva HRABINCOVÁ, Romana SLOVÁČKOVÁ a Libor KOZÁK. Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. Human Mutation. New York (NY): Wiley-Liss, Inc., roč. 18, č. 3, 5 s. ISSN 1059-7794. 2001. |
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@article{366431,
author = {Kuhrová, Viera and Francová, Hana and Zapletalová, Petra and Freiberger, Tomáš and Fajkusová, Lenka and Hrabincová, Eva and Slováčková, Romana and Kozák, Libor},
article_location = {New York (NY)},
article_number = {3},
keywords = {familial hypercholesterolemia; FH; LDL receptor; LDLR; Czechoslovakian},
language = {eng},
issn = {1059-7794},
journal = {Human Mutation},
title = {Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients},
url = {http://interscience.wiley.com/jpages/1059-7794/mutbr_2001.html},
volume = {18},
year = {2001}
}
TY - JOUR
ID - 366431
AU - Kuhrová, Viera - Francová, Hana - Zapletalová, Petra - Freiberger, Tomáš - Fajkusová, Lenka - Hrabincová, Eva - Slováčková, Romana - Kozák, Libor
PY - 2001
TI - Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients
JF - Human Mutation
VL - 18
IS - 3
PB - Wiley-Liss, Inc.
SN - 10597794
KW - familial hypercholesterolemia
KW - FH
KW - LDL receptor
KW - LDLR
KW - Czechoslovakian
UR - http://interscience.wiley.com/jpages/1059-7794/mutbr_2001.html
N2 - The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combinations of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. 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 activity to previously reported 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 silent polymorphism.
ER -
KUHROVÁ, Viera, Hana FRANCOVÁ, Petra ZAPLETALOVÁ, Tomáš FREIBERGER, Lenka FAJKUSOVÁ, Eva HRABINCOVÁ, Romana SLOVÁČKOVÁ a Libor KOZÁK. Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. \textit{Human Mutation}. New York (NY): Wiley-Liss, Inc., roč.~18, č.~3, 5 s. ISSN~1059-7794. 2001.
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