title: The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.
abstract: Fragile X syndrome, associated with the fragile X chromosome, is the most common cause of familial mental retardation. A breakthrough has been made in molecular biological research into the fragile X site. In this review we describe the molecular investigations that have led to the isolation of the FMR-1 gene. The nature of the fragile X mutation as well as the implications of the DNA test for the mutation are discussed.
authors.affiliation: Department of Cell Biology, Erasmus University, Rotterdam, The Netherlands.
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: A J
authors.initials: AJ
authors.lastname: Verkerk
mesh_terms: D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D014960:X Chromosome
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human