A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Wu
J Y
JY
Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
Yang
C F
CF
Lee
C C
CC
Chang
J G
JG
Tsai
F J
FJ
D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine; D044466:Asian People / Q000235:genetics; D002681:China / Q000208:ethnology; D005808:Genes, Recessive / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D005973:Glutamine; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000201:enzymology / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000235:genetics; D013577:Syndrome; D013624:Taiwan / Q000453:epidemiology
D005973:Glutamine; D001120:Arginine; D020051:N-Acetylgalactosamine-4-Sulfatase