title: First study of the C2491t nonsense mutation frequency in moroccan healthy population.
abstract: The mutation FV Leiden (G1691A) is the most common mutation worldwide with a variable allelic frequency between countries. More frequent in the European and Caucasian populations and rare or absent in African native population, the FVL was studied in the Moroccan population (They-They et al. Ann Hum Biol 37(6):767-777, 2010) and is totally absent as reported previously by (Mathonnet et al. Thromb Haemost 88(6):1073-1074, 2002). Here, another mutation in FV (Q773Term) was detected in a Moroccan patient, which took our interest for this study and establishes the first epidemiological database for future associated studies concerning neurovascular diseases.
authors.affiliation: Laboratory of Human Genetics and Molecular Pathology, Medical School, University Hassan II Casablanca, Casablanca, Morocco, khalil.hamzi@gmail.com.
authors.forename: K
authors.initials: K
authors.lastname: Hamzi
authors.forename: B
authors.initials: B
authors.lastname: Diakité
authors.forename: W
authors.initials: W
authors.lastname: Hmimech
authors.forename: S
authors.initials: S
authors.lastname: Nadifi
mesh_terms: D000328:Adult; D018912:Arabs / Q000235:genetics; D018389:Codon, Nonsense; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009018:Morocco; D011153:Population / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C095381:factor V Leiden; D005165:Factor V