Article
Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc - 1 Nov 2011
Mizukami Keijiro, Chang Hye-Sook, Yabuki Akira, Kawamichi Takuji, Kawahara Natsuko, Hayashi Daisuke, Hossain Mohammad A, Rahman Mohammad M, Uddin Mohammad M, Yamato Osamu
Abstract excerpt
Neuronal ceroid lipofuscinosis (NCL) constitutes a group of recessively inherited lysosomal storage diseases that primarily affect neuronal cells. Such diseases share certain clinical and pathologic features in human beings and animals. Neuronal ceroid lipofuscinosis in Border Collie dogs was first detected in Australia in the 1980s, and the pathogenic mutation was shown to be a nonsense mutation (c.619C>T) in...
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