A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs

Journal of Inherited Metabolic Disease

Volumn 25, Issue 6, 2002, Pages 525-526

  Yamato, O ^a   Endoh, D ^b   Kobayashi, A ^a   Masuoka, Y ^c   Yonemura, M ^d   Hatakeyama, A ^a   Satoh, H ^a   Tajima, M ^a   Yamasaki, M ^a   Maede, Y ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b RAKUNO GAKUEN UNIVERSITY   (Japan)

^c Midorinomori Animal Hospital   (Japan)

^d Miyanomori Memorial Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BETA GALACTOSIDASE; COMPLEMENTARY DNA; CYTOSINE; NUCLEOTIDE;

ACCURACY; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL TISSUE; BREEDING; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DNA EXTRACTION; DNA SYNTHESIS; DOG; ENZYME DEFICIENCY; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GM1 GANGLIOSIDOSIS; HETEROZYGOTE; HOMOZYGOSITY; LEUKOCYTE; MUSCLE; NONHUMAN; OPEN READING FRAME; RECESSIVE GENE; RESTRICTION MAPPING; RNA EXTRACTION; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SHORT SURVEY; UMBILICAL CORD;

EID: 12244269106     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021280007739     Document Type: Short Survey

References (3)

1. M1 gangliosidosis and Morquio B disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3775-3809.
2. Wang ZH, Zeng B, Shibuya H, et al (2000) Isolation and characterization of the normal canine β-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23: 593-606.
3. Yamato O, Ochiai K, Masuoka Y, et al (2000) GM1 gangliosidosis in shiba dogs. Veterinary Record 146: 493-496.