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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Wilson, P J, Morris, C P, Anson, D S, Occhiodoro, T, Bielicki, J, Clements, P R, Hopwood, J J
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1990
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC54990/
https://ncbi.nlm.nih.gov/pubmed/2122463
Tagiau: Ychwanegu Tag
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