A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.
Meaney
C
C
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Blanch
L C
LC
Morris
C P
CP
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005091:Exons; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012016:Reference Values; D000519:alpha-Galactosidase / Q000235:genetics*
D017931:DNA Primers; D004247:DNA; D000519:alpha-Galactosidase