Title : Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.

Pub. Date : 1999

PMID : 10447264






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 The disease is caused by the inability to degrade dermatan sulphate and heparan sulphate due to mutations in the iduronate-2-sulphatase gene (IDS). Dermatan Sulfate iduronate 2-sulfatase Homo sapiens