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

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 from 40 families...

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Bibliographic Details
Main Authors: H. Amartino, R. Ceci, F. Masllorens, A. Gal, C. Arberas, L. Bay, R. Ilari, J. Dipierri, N. Specola, A. Cabrera, P. Rozenfeld
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Genetic testing
Genotype–phenotype correlation
Hunter syndrome
Lysosomal storage disorder
Mucopolysaccharidosis type II
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000573

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http://www.sciencedirect.com/science/article/pii/S2214426914000573

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