title: CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia.
authors.affiliation: Laboratoire de Biochimie, Faculté de Médecine, 5019 Monastir, Tunisia. Naceur.Slimane@fmm.rnu.tn
authors.forename: M N
authors.initials: MN
authors.lastname: Slimane
authors.forename: S
authors.initials: S
authors.lastname: Lestavel
authors.forename: V
authors.initials: V
authors.lastname: Clavey
authors.forename: F
authors.initials: F
authors.lastname: Maatouk
authors.forename: M H
authors.initials: MH
authors.lastname: Ben Fahrat
authors.forename: J C
authors.initials: JC
authors.lastname: Fruchart
authors.forename: M
authors.initials: M
authors.lastname: Hammami
authors.forename: P
authors.initials: P
authors.lastname: Benlian
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*; D014416:Tunisia
chemical_list: D011973:Receptors, LDL; D004247:DNA