Article
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
Human mutation - 1 Jan 1998
Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood J J, Nelson J, Kato Z, Yamagishi A, Sukegawa K, Kondo N, Orii T
Abstract excerpt
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Previous studies of patients from a British-Irish population showed that the I113F mutation is the most common single mutation among MPS IVA patients and produces a severe clinical phenotype. We studied mutations in the GALNS gene from 23...
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