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A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.
Deng, Yuyuan; Niu, Zhijie; Fan, LiangLiang; Ling, Jie; Chen, Hongsheng; Cai, Xinzhang; Mei, Lingyun; He, Chufeng; Zhang, Xuewei; Wen, Jie; Li, Meng; Li, Wu; Li, Taoxi; Sang, Shushan; Liu, Yalan; Feng, Yong.
Afiliación
  • Deng Y; Department of Otolaryngology, Xiangya hospital, Central South University, Changsha, China.
  • Niu Z; Center for Medical Genetics, Central South University, Changsha, China.
  • Fan L; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Xiangya Hospital, Central South University, Changsha, China.
  • Ling J; Department of Otolaryngology, Xiangya hospital, Central South University, Changsha, China.
  • Chen H; Center for Medical Genetics, Central South University, Changsha, China.
  • Cai X; Institute of Precision Medicine, Xiangya Hospital, Central South University, Changsha, China.
  • Mei L; Department of Otolaryngology, Xiangya hospital, Central South University, Changsha, China.
  • He C; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Xiangya Hospital, Central South University, Changsha, China.
  • Zhang X; Department of Otolaryngology, Xiangya hospital, Central South University, Changsha, China.
  • Wen J; Department of Otolaryngology, Xiangya hospital, Central South University, Changsha, China.
  • Li M; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Xiangya Hospital, Central South University, Changsha, China.
  • Li W; Department of Otolaryngology, Xiangya hospital, Central South University, Changsha, China.
  • Li T; Health Management Center, Xiangya Hospital, Central South University, Changsha, China.
  • Sang S; Department of Otolaryngology, Xiangya hospital, Central South University, Changsha, China.
  • Liu Y; Center for Medical Genetics, Central South University, Changsha, China.
  • Feng Y; Center for Medical Genetics, Central South University, Changsha, China.
J Hum Genet ; 63(6): 723-730, 2018 Jun.
Article en En | MEDLINE | ID: mdl-29559740
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Pérdida Auditiva Sensorineural / Proteínas Musculares / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Pérdida Auditiva Sensorineural / Proteínas Musculares / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China