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Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
Zou, Xiao-Huan; Guo, Xin-Xin; Su, Hui-Zhen; Wang, Chong; Dong, En-Lin; Wang, Ning; Chen, Wan-Jin; Zhang, Qi-Jie.
Affiliation
  • Zou XH; Fujian Key Laboratory of Molecular Neurology, Fuzhou, China.
  • Guo XX; Fujian Key Laboratory of Molecular Neurology, Fuzhou, China.
  • Su HZ; Fujian Key Laboratory of Molecular Neurology, Fuzhou, China.
  • Wang C; Fujian Key Laboratory of Molecular Neurology, Fuzhou, China.
  • Dong EL; Fujian Key Laboratory of Molecular Neurology, Fuzhou, China.
  • Wang N; Fujian Key Laboratory of Molecular Neurology, Fuzhou, China.
  • Chen WJ; Department of Neurology and Institute of Neurology, Fujian Medical University, 20 Chazhong Road, Fuzhou, 350005, China.
  • Zhang QJ; Fujian Key Laboratory of Molecular Neurology, Fuzhou, China. wanjinchen75@fjmu.edu.cn.
J Mol Neurosci ; 68(4): 640-646, 2019 Aug.
Article in En | MEDLINE | ID: mdl-31077085
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Optic Atrophy, Hereditary, Leber / Mitochondrial Proteins Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Journal: J Mol Neurosci Journal subject: BIOLOGIA MOLECULAR / NEUROLOGIA Year: 2019 Document type: Article Affiliation country: China Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Optic Atrophy, Hereditary, Leber / Mitochondrial Proteins Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Journal: J Mol Neurosci Journal subject: BIOLOGIA MOLECULAR / NEUROLOGIA Year: 2019 Document type: Article Affiliation country: China Country of publication: Estados Unidos