Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

Journal of Inherited Metabolic Disease

Volumn 29, Issue 6, 2006, Pages 743-754

  Alves, Sandra ^a   Mangas, M ^a   Prata, M J ^b   Ribeiro, G ^a   Lopes, L ^a   Ribeiro, H ^a   Pinto Basto, J ^a   Lima, M Reis ^a   Lacerda, L ^a  

^a Institute of Genetics Jacinto Magalhães   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; GLYCINE; IDURONATE 2 SULFATASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; HUNTER SYNDROME; INTRON; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PORTUGAL; PROTEIN PROCESSING;

ALTERNATIVE SPLICING; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, COMPLEMENTARY; FEMALE; HUMANS; IDURONATE SULFATASE; INTRONS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; MUTATION; PORTUGAL;

EID: 33751055330     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0403-z     Document Type: Article

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