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A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Peter, Virginie G; Nikopoulos, Konstantinos; Quinodoz, Mathieu; Granse, Lotta; Farinelli, Pietro; Superti-Furga, Andrea; Andréasson, Sten; Rivolta, Carlo.
Affiliation
  • Peter VG; a Department of Computational Biology, Unit of Medical Genetics , University of Lausanne , Lausanne , Switzerland.
  • Nikopoulos K; b Department of Genetics and Genome Biology , University of Leicester , Leicester , UK.
  • Quinodoz M; a Department of Computational Biology, Unit of Medical Genetics , University of Lausanne , Lausanne , Switzerland.
  • Granse L; c Service of Medical Genetics , Lausanne University Hospital (CHUV) , Lausanne , Switzerland.
  • Farinelli P; a Department of Computational Biology, Unit of Medical Genetics , University of Lausanne , Lausanne , Switzerland.
  • Superti-Furga A; b Department of Genetics and Genome Biology , University of Leicester , Leicester , UK.
  • Andréasson S; d Department of Ophthalmology , University of Lund , Lund , Sweden.
  • Rivolta C; e Department of Biology , University of Copenhagen , Copenhagen , OE , Denmark.
Ophthalmic Genet ; 40(2): 177-181, 2019 04.
Article in En | MEDLINE | ID: mdl-31012789
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Mutation, Missense / Isocitrate Dehydrogenase Type of study: Etiology_studies / Prognostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2019 Document type: Article Affiliation country: Switzerland Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Mutation, Missense / Isocitrate Dehydrogenase Type of study: Etiology_studies / Prognostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2019 Document type: Article Affiliation country: Switzerland Country of publication: United kingdom