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A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
Sun, Min; Chen, Chunlin; Hou, Shengping; Li, Xue; Wang, Huan; Zhou, Jiaxing; Chen, Xi; Liu, Pei; Kijlstra, Aize; Lin, Sen; Ye, Jian.
  • Sun M; Department of Ophthalmology, Research Institute of Surgery and Daping Hospital, Army Medical University, Chongqing, China.
  • Chen C; Department of Ophthalmology, Research Institute of Surgery and Daping Hospital, Army Medical University, Chongqing, China.
  • Hou S; The First Affiliated Hospital, Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, Chongqing Eye Institute, Chongqing, China.
  • Li X; Department of Ophthalmology, Research Institute of Surgery and Daping Hospital, Army Medical University, Chongqing, China.
  • Wang H; Genesky Biotech, Shanghai, China.
  • Zhou J; Department of Ophthalmology, Research Institute of Surgery and Daping Hospital, Army Medical University, Chongqing, China.
  • Chen X; Department of Ophthalmology, Research Institute of Surgery and Daping Hospital, Army Medical University, Chongqing, China.
  • Liu P; Department of Ophthalmology, Research Institute of Surgery and Daping Hospital, Army Medical University, Chongqing, China.
  • Kijlstra A; University Eye Clinic Maastricht, Maastricht, the Netherlands.
  • Lin S; Department of Ophthalmology, Research Institute of Surgery and Daping Hospital, Army Medical University, Chongqing, China.
  • Ye J; Department of Ophthalmology, Research Institute of Surgery and Daping Hospital, Army Medical University, Chongqing, China.
Hum Mutat ; 40(4): 380-391, 2019 04.
Article en En | MEDLINE | ID: mdl-30585370
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catarata / Fosfotransferasas (Aceptor de Grupo Alcohol) / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Año: 2019 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catarata / Fosfotransferasas (Aceptor de Grupo Alcohol) / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Año: 2019 Tipo del documento: Article