Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-007-0702-z
Reference37 articles.
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3. Bond CS, Clements PR, Ashby SJ, et al (1997) Structure of a human lysosomal sulfatase. Structure 5(2): 277–289.
4. Bunge S, Kleijer WJ, Tylki-Szymanska A, et al (1997) Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum Mutat 10: 223–232.
5. Cole DE, Fukuda S, Gordon BA, et al (1996) Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA). Am J Med Genet 63: 558–565.
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