Molecular analysis in 23 Hunter disease families
Author:
Affiliation:
1. ; Centre for Medical Genetics; University Hospital of the Dutch-speaking Brussels Free University (Vrije Universiteit Brussel); Brussels Belgium
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005335624386/fullpdf
Reference8 articles.
1. Determination of the organisation of the coding sequences within the iduronate sulphate sulphatase (IDS) gene;Flomen;Hum Mol Genet,1993
2. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene;Hopwood;Hum Mutat,1993
3. Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency;Lissens;Hum Mutat,1996
4. Lu F Lu J Clingan RL 1994 Complete DNA sequence of the human iduronate sulphate sulphatase (IDS) locus
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