Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2014_376
Reference50 articles.
1. Alves S, Mangas M, Prata MJ et al (2006) Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. J Inherit Metab Dis 29:743–754
2. Bondeson ML, Dahl N, Malmgren H et al (1995) Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4:615–621
3. Brusius-Facchin AC, Schwartz IV, Zimmer C et al (2014) Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. Mol Genet Metab 111:133–138
4. Bunge S, Steglich C, Zuther C et al (1993) Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 2:1871–1875
5. Bunge S, Rathmann M, Steglich C et al (1998) Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II. Eur J Hum Genet 6:492–500
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