Article
Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
Journal of human genetics - 1 Jan 2003
El Messal Mariame, Aït Chihab Karima, Chater Rachid, Vallvé Joan Carles, Bennis Faïza, Hafidi Aïcha, Ribalta Josep, Varret Mathilde, Loutfi Mohammed, Rabès Jean Pierre, Kettani Anass, Boileau Catherine, Masana Luis, Adlouni Ahmed
Abstract excerpt
Familial hypercholesterolemia (FH) is a genetic disorder mainly caused by defects in the low-density lipoprotein receptor (LDLR) gene, although it can also be due to alterations in the gene encoding apolipoprotein B (familial defective apoB or FDB) or in other unidentified genes. In Morocco, the molecular basis of FH is unknown. To obtain information on this issue, 27 patients with FH from eight unrelated...
Topics
- Adolescent
- Adult
- Child
- DNA Mutational Analysis
- Female
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Morocco
- Mutation
- Receptors, LDL