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.
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