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ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Rodríguez-Hidalgo, María; de Bruijn, Suzanne E; Corradi, Zelia; Rodenburg, Kim; Lara-López, Araceli; Valverde-Megías, Alicia; Ávila-Fernández, Almudena; Fernandez-Caballero, Lidia; Del Pozo-Valero, Marta; Corominas, Jordi; Gilissen, Christian; Irigoyen, Cristina; Cremers, Frans P M; Ayuso, Carmen; Ruiz-Ederra, Javier; Roosing, Susanne.
Affiliation
  • Rodríguez-Hidalgo M; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • de Bruijn SE; Department of Genetic, Physical Anthropology and Animal Physiology, University of the Basque Country UPV/EHU, Leioa, Spain.
  • Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Rodenburg K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Lara-López A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Valverde-Megías A; Miramoon Pharma S.L., Donostia-San Sebastián, Spain.
  • Ávila-Fernández A; Ophthalmology Service, San Carlos Clinical Hospital of Madrid, Madrid, Spain.
  • Fernandez-Caballero L; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Del Pozo-Valero M; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Corominas J; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Gilissen C; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Irigoyen C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Cremers FPM; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Ayuso C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Ruiz-Ederra J; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
  • Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Front Genet ; 14: 1234032, 2023.
Article in En | MEDLINE | ID: mdl-37779911
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Front Genet Year: 2023 Document type: Article Affiliation country: España
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Front Genet Year: 2023 Document type: Article Affiliation country: España