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Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
Zou, Xuan; Yao, Fengxia; Li, Fengrong; Wu, Shijing; Li, Hui; Sun, Zixi; Zhu, Tian; Wei, Xing; Li, Donghui; Sui, Ruifang.
Afiliação
  • Zou X; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
  • Yao F; Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
  • Li F; Department of Ophthalmology, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing, China.
  • Wu S; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
  • Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
  • Sun Z; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
  • Zhu T; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
  • Wei X; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
  • Li D; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
  • Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Mol Vis ; 27: 221-232, 2021.
Article em En | MEDLINE | ID: mdl-34012225

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxina-7 / Distrofias de Cones e Bastonetes Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxina-7 / Distrofias de Cones e Bastonetes Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article