Artículo

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

Amartino, H; Ceci, Romina; Masllorens, F; Gal, A.; Arberas, Claudia Liliana; Bay, L; Ilari,R; Dipierri, Jose Edgardo; Specola, N; Cabrera, A; Rozenfeld, Paula AdrianaIcon
Fecha de publicación: 08/2014
Editorial: Elsevier
Revista: Molecular Genetics and Metabolism Reports
ISSN: 2214-4269
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

Resumen

Mucopolysaccharidosis 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%.
Palabras clave: Genetic Testing , Genotype–Phenotype Correlation , Hunter Syndrome , Lysosomal Storage Disorder , Mucopolysaccharidosis Type Ii
 
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Atribución-NoComercial-SinDerivadas 2.5 Argentina (CC BY-NC-ND 2.5 AR)
Identificadores
URI: http://hdl.handle.net/11336/33155
DOI: http://dx.doi.org/10.1016/j.ymgmr.2014.08.006
URL: http://www.sciencedirect.com/science/article/pii/S2214426914000573
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Articulos de INST. DE ESTUDIOS INMUNOLOGICOS Y FISIOPATOLOGICOS
Citación
Amartino, 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
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