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Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.
Niu, Zhijie; Li, Jiada; Tang, Fen; Sun, Jie; Wang, Xueping; Jiang, Lu; Mei, Lingyun; Chen, Hongsheng; Liu, Yalan; Cai, Xinzhang; Feng, Yong; He, Chufeng.
Afiliação
  • Niu Z; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China.
  • Li J; State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, People's Republic of China.
  • Tang F; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, People's Republic of China.
  • Sun J; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China.
  • Wang X; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China.
  • Jiang L; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China.
  • Mei L; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China.
  • Chen H; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China.
  • Liu Y; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China.
  • Cai X; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China.
  • Feng Y; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China; State Key Laboratory of Medical Geneti
  • He C; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China. Electronic address: hechufeng@csu.edu.
Gene ; 642: 362-366, 2018 Feb 05.
Article em En | MEDLINE | ID: mdl-29158168
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Mutação de Sentido Incorreto / Fator de Transcrição PAX3 Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Mutação de Sentido Incorreto / Fator de Transcrição PAX3 Idioma: En Ano de publicação: 2018 Tipo de documento: Article