Hunter disease in the Spanish population: molecular analysis in 31 families.

doi:10.1023/a:1005432600871

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Article

Hunter disease in the Spanish population: molecular analysis in 31 families.

Journal of inherited metabolic disease - 1 Aug 1998

Gort L, Chabás A, Coll M J

Abstract excerpt

Mucopolysaccharidosis type II (Hunter disease) is an X-linked disorder due to deficiency of the lysosomal enzyme iduronate 2-sulphatase. Here we report an update of molecular studies in 31 Spanish families with Hunter disease. We found a total of 22 novel small mutations (7 reported previously by...

Topics

Chromosome Deletion
Female
Gene Amplification
Humans
Iduronate Sulfatase
Male
Mucopolysaccharidosis II
Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Spain
X Chromosome

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