Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

dc.creatorAmartino, H
dc.creatorCeci, Romina
dc.creatorMasllorens, F
dc.creatorGal, A.
dc.creatorArberas, Claudia Liliana
dc.creatorBay, L
dc.creatorIlari,R
dc.creatorDipierri, Jose Edgardo
dc.creatorSpecola, N
dc.creatorCabrera, A
dc.creatorRozenfeld, Paula Adriana
dc.date.accessioned2018-01-12T19:53:40Z
dc.date.available2018-01-12T19:53:40Z
dc.date.created2018-01-12T19:53:40Z
dc.date.issued2014-08
dc.identifierAmartino, H; Ceci, Romina; Masllorens, F; Gal, A.; Arberas, Claudia Liliana; et al.; Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome); Elsevier; Molecular Genetics and Metabolism Reports; 1; 8-2014; 401-406
dc.identifier2214-4269
dc.identifierhttp://hdl.handle.net/11336/33155
dc.identifierCONICET Digital
dc.identifierCONICET
dc.description.abstractMucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%.
dc.languageeng
dc.publisherElsevier
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.ymgmr.2014.08.006
dc.relationinfo:eu-repo/semantics/altIdentifier/url/http://www.sciencedirect.com/science/article/pii/S2214426914000573
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetic Testing
dc.subjectGenotype–Phenotype Correlation
dc.subjectHunter Syndrome
dc.subjectLysosomal Storage Disorder
dc.subjectMucopolysaccharidosis Type Ii
dc.titleIdentification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:ar-repo/semantics/artículo
dc.typeinfo:eu-repo/semantics/publishedVersion


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