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Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.
Li, Li-Xi; Liu, Gong-Lu; Liu, Zhi-Jun; Lu, Cong; Wu, Zhi-Ying.
Affiliation
  • Li LX; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China.
  • Liu GL; Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Liu ZJ; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China.
  • Lu C; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China.
  • Wu ZY; Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
Hum Mutat ; 38(11): 1569-1578, 2017 11.
Article in En | MEDLINE | ID: mdl-28776325
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Refsum Disease / Cell Cycle Proteins / Mutation, Missense / Intracellular Signaling Peptides and Proteins / Genetic Association Studies Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: China Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Refsum Disease / Cell Cycle Proteins / Mutation, Missense / Intracellular Signaling Peptides and Proteins / Genetic Association Studies Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: China Country of publication: United States