Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI-Reference-Cited by-同舟云学术

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Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI

Published:2017-01 Issue:1 Volume:21 Page:58-62
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ittiwut Chupong¹²,Boonbuamas Sukanya³,Srichomthong Chalurmpon¹²,Ittiwut Rungnapa¹²,Suphapeetiporn Kanya¹²,Shotelersuk Vorasuk¹²

Affiliation:

1. Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genetics, Chulalongkorn University, Bangkok, Thailand.

2. Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.

3. Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2016.0221

Reference12 articles.

1. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

2. Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

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

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