Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Human Mutation

Volumn 31, Issue 7, 2010, Pages

  Fedele, Anthony O ^a   Hopwood, John J ^a  

^a Lysosomal Diseases Research Unit   (Australia)

Author keywords

Functional analysis; HGSNAT; Mucopolysaccharidosis IIIC; Sanfilippo C syndrome

Indexed keywords

COMPLEMENTARY DNA; ACYLTRANSFERASE; HGSNAT PROTEIN, HUMAN; MUTANT PROTEIN;

ALLELE; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HGSNAT GENE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SANFILIPPO SYNDROME TYPE C; CELL LINE; ENZYME ASSAY; ENZYMOLOGY; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC TRANSFECTION; GENETICS; IMMUNOBLOTTING; METABOLISM; MUTATION; PATHOLOGY; SANFILIPPO SYNDROME; SITE DIRECTED MUTAGENESIS;

ACETYLTRANSFERASES; CELL LINE; ENZYME ASSAYS; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; IMMUNOBLOTTING; MUCOPOLYSACCHARIDOSIS III; MUTAGENESIS, SITE-DIRECTED; MUTANT PROTEINS; MUTATION; TRANSFECTION;

EID: 77954116878     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21286     Document Type: Article

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