Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.

Iduronate 2-sulfatase (IDS, EC 3.1.6.13) is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations causing IDS deficiency in humans result in the lysosomal storage of these glycosaminoglycans and Hunter syndrome, an X chromosome-linked disease. We have isolated and...

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Detaylı Bibliyografya
Asıl Yazarlar: Wilson, P J, Morris, C P, Anson, D S, Occhiodoro, T, Bielicki, J, Clements, P R, Hopwood, J J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1990
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC54990/
https://ncbi.nlm.nih.gov/pubmed/2122463
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