Mutations in the iduronate-z-sulfatase gene in 12 spanish patients with hunter disease

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Gort, Laura ^a   Coll, M Josep ^a   Chabás, Amparo ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IDURONATE 2 SULFATASE;

ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; DNA SEQUENCE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUNTER SYNDROME; LYSOSOME STORAGE DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN; X CHROMOSOME LINKED DISORDER; CHEMISTRY; ENZYMOLOGY; EXON; FAMILY HEALTH; FEMALE; GENETICS; MALE; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE;

DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; IDURONATE SULFATASE; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPAIN;

EID: 0031965101     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110123     Document Type: Article

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