A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.
Tomatsu
S
S
Department of Pediatrics, Gifu University School of Medicine, Japan.
Fukuda
S
S
Ogawa
T
T
Kato
Z
Z
Isogai
K
K
Kondo
N
N
Suzuki
Y
Y
Shimozawa
N
N
Sukegawa
K
K
Orii
T
T
D001483:Base Sequence; D002811:Chondroitinsulfatases / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D007564:Japan; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
D002811:Chondroitinsulfatases