Gene symbol: SGSH. Disease: Sanfilippo syndrome type A.
Zhang
Weimin
W
Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Clinical Research Laboratory, Beijing, People's Republic of China. wmzhang2004@yahoo.com.cn
Huiping
Shi
S
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation
D003062:Codon; D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase