Publication details

R395W, K497E and P664L: Three missense mutations in the LDL receptor gene in Czech patients with familial hypercholesterolemia

Authors

KUHROVÁ Viera KOZÁK L. SOŠKA Vladimír FAJKUSOVÁ Lenka STEJSKAL Jaroslav BLAŽKOVÁ Michaela FREIBERGER Tomáš JURTÍKOVÁ A.

Year of publication 1998
Type Article in Periodical
Magazine / Source Human Mutation
MU Faculty or unit

Faculty of Medicine

Citation
Field Genetics and molecular biology
Keywords low density lipoprotein receptor; mutation; familial hypercholesterolemia
Description Three novel missense LDL receptor gene mutations in Czech familial hyperchoelsterolemia patients are described.

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