TY  - GEN
AU  - Francová,H
AU  - Trbusek,M
AU  - Zapletalová,P
AU  - Kuhrová,V
TI  - New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis
SN  - 0141-8955
PY  - 2005///0125
KW  - Adolescent
KW  - Base Sequence
KW  - Cell Line
KW  - Child
KW  - Czech Republic
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Hyperlipoproteinemia Type II
KW  - genetics
KW  - Liver
KW  - Luciferases
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Phenotype
KW  - Promoter Regions, Genetic
KW  - Receptors, LDL
KW  - TATA Box
KW  - Transfection
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1023/B:BOLI.0000037337.93335.c4
ER  -