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Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
Liu, Fei; Qin, Yayun; Yu, Shanshan; Soares, Dinesh C; Yang, Lifang; Weng, Jun; Li, Chang; Gao, Meng; Lu, Zhaojing; Hu, Xuebin; Liu, Xiliang; Jiang, Tao; Liu, Jing Yu; Shu, Xinhua; Tang, Zhaohui; Liu, Mugen.
Afiliação
  • Liu F; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Qin Y; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Yu S; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Soares DC; MRC Human Genetics Unit/Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom, and.
  • Yang L; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Weng J; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Li C; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Gao M; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Lu Z; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Hu X; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Liu X; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Jiang T; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Liu JY; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Shu X; Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, United Kingdom.
  • Tang Z; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China.
  • Liu M; From the Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China, lium@hust.edu.cn.
J Biol Chem ; 292(15): 6225-6239, 2017 04 14.
Article em En | MEDLINE | ID: mdl-28209709
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Peixe-Zebra / Sequência de Bases / Deleção de Sequência / Proteínas de Peixe-Zebra / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas do Olho / Proteínas de Membrana Limite: Animals / Humans Idioma: En Revista: J Biol Chem Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos
Texto completo
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Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Peixe-Zebra / Sequência de Bases / Deleção de Sequência / Proteínas de Peixe-Zebra / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas do Olho / Proteínas de Membrana Limite: Animals / Humans Idioma: En Revista: J Biol Chem Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos