A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse

Human Molecular Genetics

Volumn 7, Issue 2, 1998, Pages 313-321

  Rottier, Robbert J ^a   Bonten, Erik ^a   D'Azzo, Alessandra ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; CARBOXYPEPTIDASE C; GLYCOPROTEIN; GLYCOSIDASE; LYSOSOME ENZYME; SERINE CARBOXYPEPTIDASE; SIALIDASE;

AMINO ACID SUBSTITUTION; ANIMAL MODEL; ARTICLE; CHROMOSOME 17; ENZYME DEFICIENCY; GALACTOSIALIDOSIS; GENE LOCUS; IMMUNE RESPONSE; LYSOSOME STORAGE DISEASE; MOLECULAR WEIGHT; MOUSE; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SIALIDOSIS;

ADENOSINE DIPHOSPHATE; AMINO ACID SEQUENCE; ANIMALS; COS CELLS; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DWARFISM; FIBROBLASTS; GENES; GENOTYPE; GLYCOSYLATION; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MACROMOLECULAR SUBSTANCES; MICE; MICE, INBRED BALB C; MICE, INBRED STRAINS; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; NEURAMINIDASE; PHENOTYPE; POINT MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECOMBINANT FUSION PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

ANIMALIA;

EID: 0031984490     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.2.313     Document Type: Article

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