| KUHROVÁ, Viera, L. KOZÁK, Vladimír SOŠKA, Lenka FAJKUSOVÁ, Jaroslav STEJSKAL, Michaela BLAŽKOVÁ, Tomáš FREIBERGER and A. JURTÍKOVÁ. R395W, K497E and P664L: Three missense mutations in the LDL receptor gene in Czech patients with familial hypercholesterolemia. Human Mutation. 1998, vol. 11, Suppl.1, p. S327, 1 pp. ISSN 1059-7794. |
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@article{204468,
author = {Kuhrová, Viera and Kozák, L. and Soška, Vladimír and Fajkusová, Lenka and Stejskal, Jaroslav and Blažková, Michaela and Freiberger, Tomáš and Jurtíková, A.},
article_number = {Suppl.1},
keywords = {low density lipoprotein receptor; mutation; familial hypercholesterolemia},
language = {eng},
issn = {1059-7794},
journal = {Human Mutation},
title = {R395W, K497E and P664L: Three missense mutations in the LDL receptor gene in Czech patients with familial hypercholesterolemia},
volume = {11},
year = {1998}
}
TY - JOUR
ID - 204468
AU - Kuhrová, Viera - Kozák, L. - Soška, Vladimír - Fajkusová, Lenka - Stejskal, Jaroslav - Blažková, Michaela - Freiberger, Tomáš - Jurtíková, A.
PY - 1998
TI - R395W, K497E and P664L: Three missense mutations in the LDL receptor gene in Czech patients with familial hypercholesterolemia
JF - Human Mutation
VL - 11
IS - Suppl.1
SP - S327
EP - S327
SN - 10597794
KW - low density lipoprotein receptor
KW - mutation
KW - familial hypercholesterolemia
N2 - Three novel missense LDL receptor gene mutations in Czech familial hyperchoelsterolemia patients are described.
ER -
KUHROVÁ, Viera, L. KOZÁK, Vladimír SOŠKA, Lenka FAJKUSOVÁ, Jaroslav STEJSKAL, Michaela BLAŽKOVÁ, Tomáš FREIBERGER and A. JURTÍKOVÁ. R395W, K497E and P664L: Three missense mutations in the LDL receptor gene in Czech patients with familial hypercholesterolemia. \textit{Human Mutation}. 1998, vol.~11, Suppl.1, p.~S327, 1 pp. ISSN~1059-7794.
|
