Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Human mutation

Volumn 24, Issue 4, 2004, Pages 352-

  Georgiou, T ^a   Drousiotou, A ^a   Campos, Y ^a   Caciotti, A ^a   Sztriha, L ^a   Gururaj, A ^a   Ozand, P ^a   Zammarchi, E ^a   Morrone, A ^a   D'Azzo, A ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; GLB1 PROTEIN, HUMAN; HYBRID PROTEIN;

ANIMAL; ARTICLE; CATALYSIS; CELL STRAIN COS1; CERCOPITHECUS; EXON; FEMALE; GENETIC HETEROGENEITY; GENETICS; GM1 GANGLIOSIDOSIS; HUMAN; INTRON; MALE; METABOLISM; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; SAUDI ARABIA; STOP CODON; UNITED ARAB EMIRATES;

ANIMALS; BETA-GALACTOSIDASE; CATALYSIS; CERCOPITHECUS AETHIOPS; CODON, NONSENSE; COS CELLS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GANGLIOSIDOSIS, GM1; GENETIC HETEROGENEITY; HUMANS; INTRONS; MALE; MUTATION; MUTATION, MISSENSE; RECOMBINANT FUSION PROTEINS; SAUDI ARABIA; UNITED ARAB EMIRATES;

EID: 14644399926     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9279     Document Type: Article

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