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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Wilson, P J, Morris, C P, Anson, D S, Occhiodoro, T, Bielicki, J, Clements, P R, Hopwood, J J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1990
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC54990/
https://ncbi.nlm.nih.gov/pubmed/2122463
Etiketak: Etiketa erantsi
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