Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan.
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ABSTRACT:
SUBMITTER: Horiuchi N
PROVIDER: S-EPMC4638296 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
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Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan.
Horiuchi Noriyuki N Kumagai Daishiro D Matsumoto Kotaro K Inokuma Hisashi H Furuoka Hidefumi H Kobayashi Yoshiyasu Y
The Journal of veterinary medical science 20150501 10
Bovine dilated cardiomyopathy (DCM) is an autosomal recessive genetic disorder causing congestive heart failure and subsequent death. Recently, a nonsense mutation c.343C>T in the bovine optic atrophy 3 (OPA3) gene had been reported to cause the DCM in Holstein cattle in Switzerland. However, the mutation has not been confirmed in bovine DCM outside Switzerland. Nine Holstein Friesian cows that were macroscopically and histologically diagnosed with or suspected of DCM and 12 control cows kept in ...[more]
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