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Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). We have identified IDS mutations in a total of 31 families/patients with MPS II, of which 20 are novel and unique and a further 1 is nov...

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Autori principali: Rathmann, M., Bunge, S., Beck, M., Kresse, H., Tylki-Szymanska, A., Gal, A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1996
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914889/
https://ncbi.nlm.nih.gov/pubmed/8940265
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