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Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
Li, Yan; Furhang, Rachel; Ray, Amanda; Duncan, Todd; Soucy, Joseph; Mahdi, Rashid; Chaitankar, Vijender; Gieser, Linn; Poliakov, Eugenia; Qian, Haohua; Liu, Pinghu; Dong, Lijin; Rogozin, Igor B; Redmond, T Michael.
Afiliación
  • Li Y; Laboratory of Retinal Cell & Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland.
  • Furhang R; Laboratory of Retinal Cell & Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland.
  • Ray A; Laboratory of Retinal Cell & Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland.
  • Duncan T; Laboratory of Retinal Cell & Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland.
  • Soucy J; Laboratory of Retinal Cell & Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland.
  • Mahdi R; Laboratory of Retinal Cell & Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland.
  • Chaitankar V; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland.
  • Gieser L; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland.
  • Poliakov E; Laboratory of Retinal Cell & Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland.
  • Qian H; Visual Function Core, National Eye Institute, NIH, Bethesda, Maryland.
  • Liu P; Genetic Engineering Core, National Eye Institute, NIH, Bethesda, Maryland.
  • Dong L; Genetic Engineering Core, National Eye Institute, NIH, Bethesda, Maryland.
  • Rogozin IB; National Center for Biotechnology Information, National Library of Medicine, NIH, Bethesda, Maryland.
  • Redmond TM; Laboratory of Retinal Cell & Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland.
Hum Mutat ; 40(4): 426-443, 2019 04.
Article en En | MEDLINE | ID: mdl-30628748
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Empalme del ARN / Cis-trans-Isomerasas / Predisposición Genética a la Enfermedad / Alelos / Mutación Límite: Animals / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Empalme del ARN / Cis-trans-Isomerasas / Predisposición Genética a la Enfermedad / Alelos / Mutación Límite: Animals / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article