Publication details
Výsledky molekulárně genetického vyšetření pacientů Dětské lipidové poradny Fakultní nemocnice Olomouc v rámci projektu MedPed
| Title in English | Results of Molecular Genetic Examinations in Patients of the Child Lipid Advisory |
|---|---|
| Authors | |
| Year of publication | 2010 |
| Type | Article in Periodical |
| Magazine / Source | Česko - Slovenská Pediatrie |
| MU Faculty or unit | |
| 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. |
| Related projects: |