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, C.
dc.creatorBay, L.
dc.creatorIlari, R.
dc.creatorDipierri, J.
dc.creatorSpecola, N.
dc.creatorCabrera, A.
dc.creatorRozenfeld, P.
dc.date2014
dc.date2019-11-08T14:22:06Z
dc.identifierhttp://sedici.unlp.edu.ar/handle/10915/85217
dc.identifierissn:2214-4269
dc.descriptionMucopolysaccharidosis 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 from40 families of Argentina. Thirty different alleles have been identified, and 57%were novel. The frequency of de novomutationswas 10%. Overall, the percentage of private mutations in our series was 75%.
dc.descriptionFacultad de Ciencias Exactas
dc.formatapplication/pdf
dc.format401-406
dc.languageen
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rightsCreative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)
dc.subjectCiencias Exactas
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.typeArticulo
dc.typeArticulo


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