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

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 from40 families...

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Autores principales: Amartino, H., Ceci, Romina, Masllorens, F., Gal, A., Arberas, C., Bay, L., Ilari, R., Dipierri, J., Specola, N., Cabrera, A., Rozenfeld, P.
Formato: Articulo
Lenguaje:Inglés
Publicado: 2014
Materias:
Ciencias Exactas
Genetic testing
Genotype-phenotype correlation
Hunter syndrome
Lysosomal storage disorder
Mucopolysaccharidosis type II
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/85217
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-85217
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Exactas
Genetic testing
Genotype-phenotype correlation
Hunter syndrome
Lysosomal storage disorder
Mucopolysaccharidosis type II
spellingShingle Ciencias Exactas
Genetic testing
Genotype-phenotype correlation
Hunter syndrome
Lysosomal storage disorder
Mucopolysaccharidosis type II
Amartino, H.
Ceci, Romina
Masllorens, F.
Gal, A.
Arberas, C.
Bay, L.
Ilari, R.
Dipierri, J.
Specola, N.
Cabrera, A.
Rozenfeld, P.
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
topic_facet Ciencias Exactas
Genetic testing
Genotype-phenotype correlation
Hunter syndrome
Lysosomal storage disorder
Mucopolysaccharidosis type II
description 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 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%.
format Articulo
Articulo
author Amartino, H.
Ceci, Romina
Masllorens, F.
Gal, A.
Arberas, C.
Bay, L.
Ilari, R.
Dipierri, J.
Specola, N.
Cabrera, A.
Rozenfeld, P.
author_facet Amartino, H.
Ceci, Romina
Masllorens, F.
Gal, A.
Arberas, C.
Bay, L.
Ilari, R.
Dipierri, J.
Specola, N.
Cabrera, A.
Rozenfeld, P.
author_sort Amartino, H.
title Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_short Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_full Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_fullStr Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_full_unstemmed Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_sort identification of 17 novel mutations in 40 argentinean unrelated families with mucopolysaccharidosis type ii (hunter syndrome)
publishDate 2014
url http://sedici.unlp.edu.ar/handle/10915/85217
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