A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.
Lam
Ching-wan
CW
Department of Chemical Pathology, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong, China. ching-wanlam@cuhk.edu.hk
Chan
Angel On-kei
AO
Lai
Chi-kong
CK
Chan
Wai-hung
WH
Chan
Yan-wo
YW
Shek
Chi-chung
CC
Tong
Sui-fan
SF
D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009154:Mutation; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000235:genetics*
D020051:N-Acetylgalactosamine-4-Sulfatase