Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes

Journal of Clinical Investigation

Volumn 101, Issue 1, 1998, Pages 109-119

  Crawley, Allison C ^a   Yogalingam, Gouri ^a   Muller, Vivienne J ^a   Hopwood, John J ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Disease models, animal; Genetics, medical; Joint diseases; Lysosomal storage diseases; Mucopolysaccharidosis VI

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; DERMATAN SULFATE; N ACETYLGALACTOSAMINE 4 SULFATASE;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BONE DYSPLASIA; CAT; ENZYME REPLACEMENT; FEMALE; GENE MUTATION; GENOTYPE; LYSOSOME STORAGE DISEASE; MALE; MAROTEAUX LAMY SYNDROME; MUCOPOLYSACCHARIDOSIS; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031985352     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI935     Document Type: Article

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