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A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
Li, Taoxi; Feng, Yong; Liu, Yalan; He, Chufeng; Liu, Jing; Chen, Hongsheng; Deng, Yuyuan; Li, Meng; Li, Wu; Song, Jian; Niu, Zhijie; Sang, Shushan; Wen, Jie; Men, Meichao; Chen, Xiaoya; Li, Jiada; Liu, Xuezhong; Ling, Jie.
Afiliação
  • Li T; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China; Center for Medical Genetics, Central South University, Changsha, Hu
  • Feng Y; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China; Center for Medical Genetics, Central South University, Changsha, Hu
  • Liu Y; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya
  • He C; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya
  • Liu J; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Chen H; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Deng Y; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Li M; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Li W; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Song J; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Niu Z; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Sang S; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Wen J; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Men M; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Chen X; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan 410008, China.
  • Li J; Center for Medical Genetics, Central South University, Changsha, Hunan 410008, China.
  • Liu X; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Department of Otolaryngology, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
  • Ling J; Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorde
Gene ; 704: 113-120, 2019 Jul 01.
Article em En | MEDLINE | ID: mdl-30974196
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Síndromes de Usher / Monoacilglicerol Lipases Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Child / Female / Humans / Male Idioma: En Revista: Gene Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Hungria País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Síndromes de Usher / Monoacilglicerol Lipases Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Child / Female / Humans / Male Idioma: En Revista: Gene Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Hungria País de publicação: Holanda