Nonsense mutation of feline β-hexosaminidase β-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats

Research in Veterinary Science

Volumn 82, Issue 1, 2007, Pages 54-60

  Kanae, Y ^a   Endoh, D ^a   Yamato, O ^b   Hayashi, D ^c   Matsunaga, S ^d   Ogawa, H ^d   Maede, Y ^c   Hayashi, M ^a  

^a RAKUNO GAKUEN UNIVERSITY   (Japan)

^b Faculty of Agriculture   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

Hexosaminidase; Alternative splicing; Cat; Gangliosidosis; Nonsense mutation; Sandhoff disease

Indexed keywords

ARGININE; BETA N ACETYLHEXOSAMINIDASE B; COMPLEMENTARY DNA; MESSENGER RNA;

AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; CAT DISEASE; CODON; DOMESTIC ANIMAL; ENZYME ASSAY; GENETIC ASSOCIATION; GENOTYPE; MOLECULAR CLONING; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; RESTRICTION MAPPING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANDHOFF DISEASE; STOP CODON;

ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; CAT DISEASES; CATS; CODON, NONSENSE; JAPAN; PEDIGREE; SANDHOFF DISEASE;

FELIDAE; FELIS CATUS;

EID: 33845238476     PISSN: 00345288     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rvsc.2006.05.007     Document Type: Article

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