Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
Davies
J
J
Unit of Biochemistry, Institute of Child Health (University of London),UK.
Christomanou
H
H
Winchester
B
B
Malcolm
S
S
D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D000795:Fabry Disease / Q000235:genetics*; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D012326:RNA Splicing; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000235:genetics*
D000519:alpha-Galactosidase