A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.
- Author:
Ching-wan LAM
1
;
Angel On-kei CHAN
;
Chi-kong LAI
;
Wai-hung CHAN
;
Yan-wo CHAN
;
Chi-chung SHEK
;
Sui-fan TONG
Author Information
1. Department of Chemical Pathology, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong, China. ching-wanlam@cuhk.edu.hk
- Publication Type:Journal Article
- MeSH:
Child;
Female;
Humans;
Male;
Mucopolysaccharidosis IV;
genetics;
Mutation;
N-Acetylgalactosamine-4-Sulfatase;
genetics
- From:
Chinese Medical Journal
2004;117(12):1850-1852
- CountryChina
- Language:English
