Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
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Bekri S, Armana G, De Ricaud D, Osenda M, Maire I, Van Obberghen E, Froissart R
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
J Inherit Metab Dis. 2005;28(4):601-2. doi: 10.1007/s10545-005-0601-0.
- PubMed ID
- 15902564 [ View in PubMed]
- Abstract
An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described. Molecular analysis detected a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P).