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

Human mutation

Volumn 20, Issue 3, 2002, Pages 231-

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

^a SAN GERARDO HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LEVO IDURONIDASE;

ALLELE; ARTICLE; CHEMISTRY; ENZYMOLOGY; GENE FREQUENCY; GENETICS; GENOTYPE; HUMAN; HURLER SYNDROME; ITALY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE;

ALLELES; DNA; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENOTYPE; HUMANS; IDURONIDASE; ITALY; MUCOPOLYSACCHARIDOSIS I; MUTATION; PHENOTYPE;

EID: 0036730529     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9051     Document Type: Article

References (0)