Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients-Reference-Cited by-同舟云学术

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients

Published:2005-12 Issue:6 Volume:28 Page:1027-1034
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Petry M. F. G.,Nonemacher K.,Sebben J. C.,Schwartz I. V. D.,Azevedo A. C. M.,Burin M. G.,De Rezende A. R.,Kim C. A.,Giugliani R.,Leistner-Segal S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-005-0020-2

Reference15 articles.

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2. Isbrandt D, Arlt G, Brooks DA, Hopwoos JJ, von Figura K, Peter C (1994) Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Am J Hum Genet 54: 454–463.

3. Jin W-D, Desnick RJ, Schuchman EH (1991) A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14. Nucleic Acids Res 19: 4305.

4. Karageorgos L, Haarmatz P, Simon J, et al (2004) Hum Mutat 23: 229–233.

5. Litjens T, Hopwood JJ (2001) Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acetylgalactosamine-4-sulphatase. Hum Mutat 18: 282–295.

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