Article
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
Human mutation - 1 Jan 1997
Bunge S, Kleijer W J, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis B J, Czartoryska B, Orii T, Gal A
Abstract excerpt
Mutation analysis of the N-acetylgalactosamine-6-sulfate sulfatase gene was performed in a group of 35 patients with mucopolysaccharidosis type IVA from 33 families, mainly of European origin. By nonradioactive SSCP screening, 35 different gene mutations were identified, 31 of them novel. Together they account for 88.6% of the disease alleles of the patients investigated. The vast majority of the gene alterations...
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