Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene

Human mutation

Volumn 18, Issue 2, 2001, Pages 164-165

  Filocamo, Mirella ^a   Bonuccelli, Gloria ^a   Corsolini, Fabio ^a   Mazzotti, Raffaella ^a   Cusano, Roberto ^a   Gatti, Rosanna ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

IDURONATE 2 SULFATASE;

ARTICLE; CELL CULTURE; ENZYMOLOGY; EXON; FEMALE; GENE DELETION; GENETICS; GENOTYPE; HUMAN; HUNTER SYNDROME; ITALY; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PRENATAL DIAGNOSIS; RNA SPLICING; STOP CODON;

CELLS, CULTURED; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HUMANS; IDURONATE SULFATASE; ITALY; MUCOPOLYSACCHARIDOSIS II; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PRENATAL DIAGNOSIS; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 0035432222     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1169     Document Type: Article

References (0)