Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
Tomatsu
S
S
Department of Pediatrics, Gifu University School of Medicine, Japan.
Fukuda
S
S
Cooper
A
A
Wraith
J E
JE
Yamada
N
N
Isogai
K
K
Kato
Z
Z
Sukegawa
K
K
Kondo
N
N
Suzuki
Y
Y
D001483:Base Sequence; D002874:Chromosome Mapping; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D044465:White People / Q000235:genetics