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A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss: functional characterization of the C-terminal domain in LMX1A.
Xiao, Min; Zheng, Yan; Huang, Kuo-Hsiang; Yu, Shanhe; Zhang, Wenbi; Xi, Yanping; Dou, Yan; Sun, Xiaoxi; Lei, Caixia; Yu, Huiqian.
Affiliation
  • Xiao M; Shanghai Ji Ai Genetics and IVF Institute, The Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
  • Zheng Y; Department of Pancreatic Surgery, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China.
  • Huang KH; Shanghai Key Laboratory of Pancreatic Disease, Institute of Pancreatic Disease, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China.
  • Yu S; Shanghai Jingzhou Medical Laboratory Corporation Company Limited, Shanghai 201321, China.
  • Zhang W; Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China.
  • Xi Y; Shanghai Ji Ai Genetics and IVF Institute, The Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
  • Dou Y; Shanghai Ji Ai Genetics and IVF Institute, The Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
  • Sun X; Shanghai Jingzhou Medical Laboratory Corporation Company Limited, Shanghai 201321, China.
  • Lei C; Shanghai Ji Ai Genetics and IVF Institute, The Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
  • Yu H; Shanghai Ji Ai Genetics and IVF Institute, The Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
Hum Mol Genet ; 32(8): 1348-1360, 2023 04 06.
Article in En | MEDLINE | ID: mdl-36519758
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deafness / Hearing Loss / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: China Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deafness / Hearing Loss / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: China Country of publication: United kingdom