title: Identification of three novel frameshift mutations in patients with Friedreich's ataxia.
authors.forename: M A
authors.initials: MA
authors.lastname: Pook
authors.forename: S A
authors.initials: SA
authors.lastname: Al-Mahdawi
authors.forename: N H
authors.initials: NH
authors.lastname: Thomas
authors.forename: R
authors.initials: R
authors.lastname: Appleton
authors.forename: A
authors.initials: A
authors.lastname: Norman
authors.forename: R
authors.initials: R
authors.lastname: Mountford
authors.forename: S
authors.initials: S
authors.lastname: Chamberlain
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D005621:Friedreich Ataxia / Q000235:genetics*; D006801:Humans; D033862:Iron-Binding Proteins; D008297:Male; D009154:Mutation; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D000096923:Frataxin
chemical_list: D004247:DNA; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin