Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)-Reference-Cited by-同舟云学术

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Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)

Published:2009-02-17 Issue:4 Volume:30 Page:511-519
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Tomatsu Shunji,Montaño Adriana M.,Dung Vu Chi,Grubb Jeffrey H.,Sly William S.

Funder

Austrian Research Society for Mucopolysaccharidoses and Related Diseases

German MPS Society

Italian MPS Society

National MPS Society

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency;Birkenmeier;J Clin Invest,1989

2. Purification and properties of beta-glucuronidase from human placenta;Brot;Biochemistry,1978

3. Molecular analysis of mucopolysaccharidosis type VII;Fukuda;J Inherit Metab Dis,1991

4. Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII;Fyfe;Genomics,1999

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1. Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China;European Journal of Medical Genetics;2024-04

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3. Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?;Molecular Genetics and Metabolism;2024-03

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