Large Deletion Involving Exon 5 of the Arylsulfatase B Gene Caused Apparent Homozygosity in a Mucopolysaccharidosis Type VI Patient-Reference-Cited by-同舟云学术

Large Deletion Involving Exon 5 of the Arylsulfatase B Gene Caused Apparent Homozygosity in a Mucopolysaccharidosis Type VI Patient

Published:2010-02 Issue:1 Volume:14 Page:113-120
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Villani Guglielmo R.D.¹,Grosso Michela¹,Pontarelli Gianfranco¹,Chierchia Armando¹,Sessa Raffaele¹,Sibilio Michelina²,Parenti Giancarlo²,Di Natale Paola¹

Affiliation:

1. Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.

2. Department of Pediatrics, University of Naples Federico II, Naples, Italy.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2009.0138

Reference19 articles.

1. Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B

2. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

3. Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

4. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux–Lamy syndrome) patients, including 9 novel mutations

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