title: The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia.
abstract: Familial hypercholesterolemia (FH) is a genetic disease caused by mutations in the low-density lipoprotein receptor gene. Among the more than 200 mutations so far identified, the T705I substitution in exon 15, designated FH-Paris 9, has been previously described as an FH-causing mutation. During the course of denaturing gradient gel electrophoretic screening of exon 15 we have identified the T705I single-base substitution not only in an FH family but also in a control, normocholesterolemic population. Therefore, we conclude that FH-Paris 9 is a missense mutation not associated with FH.
authors.affiliation: TNO-PG, Gaubius Laboratory, Leiden, The Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Lombardi
authors.forename: E J
authors.initials: EJ
authors.lastname: Sijbrands
authors.forename: S
authors.initials: S
authors.lastname: Kamerling
authors.forename: J A
authors.initials: JA
authors.lastname: Leuven
authors.forename: L M
authors.initials: LM
authors.lastname: Havekes
mesh_terms: D000328:Adult; D001483:Base Sequence; D002784:Cholesterol / Q000097:blood; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008297:Male; D010297:Paris; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011973:Receptors, LDL / Q000235:genetics*; D012016:Reference Values
chemical_list: D011973:Receptors, LDL; D002784:Cholesterol