Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4). The deficiency of N-acetylgalactosamine-6-sulfate sulfatase leads to lysosomal accumulation of undegraded glycosaminoglycans, keratan sulfate
Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients
✍ Scribed by Shunji Tomatsu; Mirella Filocamo; Koji O. Orii; William S. Sly; Monica A. Gutierrez; Tatsuo Nishioka; Olga Peña Serrato; Paola Di Natale; Adriana Maria Montaño; Seiji Yamaguchi; Naomi Kondo; Tadao Orii; Akihiko Noguchi
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 249 KB
- Volume
- 24
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
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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 t
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