Výsledky molekulárně genetického vyšetření pacientů Dětské lipidové poradny Fakultní nemocnice Olomouc v rámci projektu MedPed

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Title in English Results of Molecular Genetic Examinations in Patients of the Child Lipid Advisory
Authors

HYJÁNEK J. PASTUCHA D. TICHÝ Lukáš FAJKUSOVÁ Lenka FREIBERGER Tomáš

Year of publication 2010
Type Article in Periodical
Magazine / Source Česko - Slovenská Pediatrie
MU Faculty or unit

Faculty of Medicine

Citation
Field Paediatry
Keywords dyslipidemias; atherosclerosis; familial hypercholesterolemia; DNA analysis; medped
Description During the past 12 years 410 patients were seen in the Paediatric lipid clinic and 96 patients are being followed up. Causal mutation of the gene for LDL receptor or the gene for Apo B-100 was detected in 62% of 74 tested patients in the cohort of familial hypercholesterolemia (FH)/familial defect of apolipoprotein B-100 (FDB). The LDL receptor mutations are usually family specific. There were 2,5 patients with FH per family and 2,6 patients with FDB per family. This is higher than the country average.
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