Identification of three novel frameshift mutations in patients with Friedreich's ataxia.
Pook
M A
MA
Al-Mahdawi
S A
SA
Thomas
N H
NH
Appleton
R
R
Norman
A
A
Mountford
R
R
Chamberlain
S
S
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
D004247:DNA; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin