title: Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene.
abstract: By using the single strand conformational analysis to search for point mutations in the choroideremia gene, we have identified an intronic polymorphism within the intron 2 of the CHM gene. We have studied the frequency of this polymorphism in the population from South of France.
authors.affiliation: Laboratoire de Biochimie Génétique, CNRS ERS 155, Institut de Biologie, Montpellier, France.
authors.forename: L
authors.initials: L
authors.lastname: Beaufrère
authors.forename: S
authors.initials: S
authors.lastname: Rieu
authors.forename: J C
authors.initials: JC
authors.lastname: Hache
authors.forename: V
authors.initials: V
authors.lastname: Dumur
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: S
authors.initials: S
authors.lastname: Tuffery
mesh_terms: D015794:Choroideremia / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D005602:France; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007438:Introns; D008297:Male; D017354:Point Mutation / Q000235:genetics; D011071:Poly T / Q000235:genetics*; D011110:Polymorphism, Genetic; D012326:RNA Splicing / Q000235:genetics*
chemical_list: D011071:Poly T