Found: 6
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Novel type of genetic rearrangement in the iduronate-2-sulfatase ( IDS) gene involving deletion, duplications, and inversions.
- Published in:
- Human Mutation, 1999, v. 14, n. 6, p. 471, doi. 10.1002/(SICI)1098-1004(199912)14:6<471::AID-HUMU5>3.0.CO;2-5
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- Article
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients.
- Published in:
- Human Mutation, 1998, v. 12, n. 6, p. 433, doi. 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU12>3.0.CO;2-M
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- Article
Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1291, doi. 10.1002/ajmg.a.35905
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- Article
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
- Published in:
- Clinical Rheumatology, 2014, v. 33, n. 5, p. 725, doi. 10.1007/s10067-013-2423-z
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- Article
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. 520, doi. 10.1111/ped.12281
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- Article
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00922-1
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- Article