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Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
Li, Huajin; Jones, Evan M; Li, Hui; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Chen, Rui; Dong, Fangtian; Sui, Ruifang.
Afiliação
  • Li H; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
  • Jones EM; b Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.
  • Li H; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
  • Yang L; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
  • Sun Z; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
  • Yuan Z; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
  • Chen R; b Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.
  • Dong F; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
  • Sui R; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
Ophthalmic Genet ; 39(5): 569-576, 2018 10.
Article em En | MEDLINE | ID: mdl-29952689
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / Povo Asiático / GTP Fosfo-Hidrolases / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / Povo Asiático / GTP Fosfo-Hidrolases / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article