Maroteaux–Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

Author:

Garrido Elena,Cormand Bru,Hopwood John J.,Chabás Amparo,Grinberg Daniel,Vilageliu Lluïsa

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference34 articles.

1. Components and proteolytic processing sites of arylsulfatase B from human placenta;Kobayashi;Biochim. Biophys. Acta,1992

2. Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B;Wicker;J. Biol. Chem.,1991

3. Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity;Jin;Am. J. Hum. Genet.,1992

4. An N-acetylgalactosamine-4-sulfatase mutation delta G238 results in a severe Maroteaux–Lamy phenotype;Litjens;Hum. Mutat.,1992

5. Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients;Litjens;Am. J. Hum. Genet.,1996

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