Title : Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.

Pub. Date : 2007 Dec

PMID : 17616540






2 Functional Relationships(s)
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1 Hunter syndrome (or Mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder due to the deficiency of the iduronate-2-sulfatase (IDS) enzyme, resulting in the accumulation of heparan and dermatan sulfates in the lysosomes. Dermatan Sulfate iduronate 2-sulfatase Homo sapiens
2 Hunter syndrome (or Mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder due to the deficiency of the iduronate-2-sulfatase (IDS) enzyme, resulting in the accumulation of heparan and dermatan sulfates in the lysosomes. Dermatan Sulfate iduronate 2-sulfatase Homo sapiens