Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
Madsen
K M
KM
Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
Hasholt
L
L
Sørensen
S A
SA
Fermér
M L
ML
Dahl
N
N
D001483:Base Sequence; D003718:Denmark; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D000519:alpha-Galactosidase / Q000235:genetics*
D000519:alpha-Galactosidase