| Registro completo |
| Provedor de dados: |
OAK
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| País: |
Japan
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| Título: |
Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan
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| Autores: |
HORIUCHI, Noriyuki
KUMAGAI, Daishiro
MATSUMOTO, Kotaro
INOKUMA, Hisashi
FURUOKA, Hidefumi
KOBAYASHI, Yoshiyasu
松本, 高太郎
猪熊, 壽
古岡, 秀文
古林, 与志安
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| Data: |
2015
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| Ano: |
2015
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| Palavras-chave: |
Cattle
Dilated cardiomyopathy
Nonsense mutation
OPA3 gene
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| Resumo: |
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 Japan were tested for the mutation. The mutation surrounding OPA3 DNA fragment was amplified by PCR and subjected to direct sequences. The homogeneous c.343C>T mutation was proved to occur in all the affected cows and not in the control cows. The present study is the first report of the mutation in the DCM affected cows outside Switzerland.
https://www.jstage.jst.go.jp/article/jvms/77/10/77_15-0150/_article/-char/ja/
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| Idioma: |
Inglês
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| Identificador: |
http://ir.obihiro.ac.jp/dspace/handle/10322/4208
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| Editor: |
日本獣医学会
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| Direitos: |
日本獣医学会
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