A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference9 articles.
1. Ittiwut C, Boonbuamas S, Srichomthong C, Ittiwut R, Suphapeetiporn K, Shotelersuk V: Novel mutations, including a large deletion in the ARSB gene, causing mucopolysaccharidosis type VI. Genet Test Mol Biomarkers 21:58-62 (2017).
2. Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, et al: Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Am J Med Genet A 164A:1443-1453 (2014).
3. Kara B, Etiler N, Aydogan Uncuoglu A, Maras Genc H, Ulak Gumuslu E, et al: Head circumference charts for Turkish children aged five to eighteen years. Noro Psikiyatr Ars 53:55-62 (2016).
4. Karageorgos L, Harmatz P, Simon J, Pollard A, Clements R, et al: Mutational analysis of mucopolysaccharidosis type VI pateints undergoing a trial of enzyme replacement therapy. Hum Mutat 23:229-233 (2004).
5. Karageorgos L, Brooks DA, Harmatz P, Katteridge D, Pollard A, et al: Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Mol Genet Metab 90:164-170 (2007a).
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1. Mucopolysaccharidosis Type VI, an Updated Overview of the Disease;International Journal of Molecular Sciences;2021-12-15
2. Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report;BMC Ophthalmology;2021-05-13
3. Epidemiology of Mucopolysaccharidoses Update;Diagnostics;2021-02-10
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