Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

Venturi, N; Rovelli, A; Parini, R; Menni, F; Brambillasca, F; Bertagnolio, F; Uziel, G; Gatti, R; Filocamo, M; Donati, M A; Biondi, A; Goldwurm, S

Venturi, N; Rovelli, A; Parini, R; Menni, F; Brambillasca, F; Bertagnolio, F; Uziel, G; Gatti, R; Filocamo, M; Donati, M A; Biondi, A; Goldwurm, S.

Affiliation

Venturi N; Centro Ricerca Fondazione M. Tettamanti and BMT-Unit, Università di Milano-Bicocca, Ospedale San Gerardo, Monza, Italy.

Hum Mutat ; 20(3): 231, 2002 Sep.

Article in En | MEDLINE | ID: mdl-12203999

Subject(s)

Iduronidase/genetics; Mucopolysaccharidosis I/genetics; Alleles; DNA/chemistry; DNA/genetics; DNA Mutational Analysis; Gene Frequency; Genotype; Humans; Italy; Mucopolysaccharidosis I/enzymology; Mucopolysaccharidosis I/pathology; Mutation; Phenotype

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Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis I / Iduronidase Type of study: Diagnostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Hum Mutat Year: 2002 Document type: Article

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