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RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Lopez-Rodriguez, Rosario; Lantero, Esther; Blanco-Kelly, Fiona; Avila-Fernandez, Almudena; Martin Merida, Inmaculada; Del Pozo-Valero, Marta; Perea-Romero, Irene; Zurita, Olga; Jiménez-Rolando, Belén; Swafiri, Saoud Tahsin; Riveiro-Alvarez, Rosa; Trujillo-Tiebas, María José; Carreño Salas, Ester; García-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen.
Affiliation
  • Lopez-Rodriguez R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Lantero E; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Avila-Fernandez A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Martin Merida I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Del Pozo-Valero M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Perea-Romero I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Zurita O; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Jiménez-Rolando B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain.
  • Swafiri ST; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Riveiro-Alvarez R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Trujillo-Tiebas MJ; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Carreño Salas E; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain.
  • García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain.
  • Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. Electronic address: cayuso@fjd.es.
Exp Eye Res ; 212: 108761, 2021 11.
Article de En | MEDLINE | ID: mdl-34492281
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: ADN / Cis-trans-isomerases / Études d'associations génétiques / Dystrophies rétiniennes / Mutation Type d'étude: Clinical_trials / Diagnostic_studies / Prognostic_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Exp Eye Res Année: 2021 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: ADN / Cis-trans-isomerases / Études d'associations génétiques / Dystrophies rétiniennes / Mutation Type d'étude: Clinical_trials / Diagnostic_studies / Prognostic_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Exp Eye Res Année: 2021 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Royaume-Uni