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The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.
Verbakel, Sanne K; Fadaie, Zeinab; Klevering, B Jeroen; van Genderen, Maria M; Feenstra, Ilse; Cremers, Frans P M; Hoyng, Carel B; Roosing, Susanne.
Affiliation
  • Verbakel SK; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Fadaie Z; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Klevering BJ; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Genderen MM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.
  • Feenstra I; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Cremers FPM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoyng CB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Roosing S; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Mol Genet Genomic Med ; 7(6): e660, 2019 06.
Article in En | MEDLINE | ID: mdl-30950243
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Proteins / Cone Dystrophy Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2019 Document type: Article Affiliation country: Países Bajos Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Proteins / Cone Dystrophy Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2019 Document type: Article Affiliation country: Países Bajos Country of publication: Estados Unidos