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A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.
Cai, S P; Fan, N; Chen, J; Xia, Z L; Wang, Y; Zhou, X M; Yin, Y; Wen, T L; Xia, Q J; Liu, X Y; Wang, H Y.
  • Cai SP; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
  • Fan N; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
  • Chen J; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
  • Xia ZL; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
  • Wang Y; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
  • Zhou XM; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
  • Yin Y; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
  • Wen TL; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
  • Xia QJ; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
  • Liu XY; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China xliu1213@126.com.
  • Wang HY; Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Genet Mol Res ; 13(3): 5395-404, 2014 Jul 24.
Article en En | MEDLINE | ID: mdl-25078596
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Exones / Mutación del Sistema de Lectura / Neurofibromatosis 1 / Neurofibromina 1 Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Exones / Mutación del Sistema de Lectura / Neurofibromatosis 1 / Neurofibromina 1 Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article