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Analysis of the ABCA4 genomic locus in Stargardt disease.
Zernant, Jana; Xie, Yajing Angela; Ayuso, Carmen; Riveiro-Alvarez, Rosa; Lopez-Martinez, Miguel-Angel; Simonelli, Francesca; Testa, Francesco; Gorin, Michael B; Strom, Samuel P; Bertelsen, Mette; Rosenberg, Thomas; Boone, Philip M; Yuan, Bo; Ayyagari, Radha; Nagy, Peter L; Tsang, Stephen H; Gouras, Peter; Collison, Frederick T; Lupski, James R; Fishman, Gerald A; Allikmets, Rando.
Afiliación
  • Zernant J; Department of Ophthalmology and.
  • Xie YA; Department of Ophthalmology and.
  • Ayuso C; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz, UAM (IIS-FJD), Madrid, Spain Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Riveiro-Alvarez R; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz, UAM (IIS-FJD), Madrid, Spain Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Lopez-Martinez MA; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz, UAM (IIS-FJD), Madrid, Spain Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.
  • Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.
  • Gorin MB; Department of Ophthalmology Department of Human Genetics, Jules Stein Eye Institute and.
  • Strom SP; Department of Ophthalmology Department of Human Genetics, Jules Stein Eye Institute and Department of Pathology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Bertelsen M; Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark.
  • Rosenberg T; Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark.
  • Boone PM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Ayyagari R; Department of Ophthalmology, University of California San Diego, La Jolla, CA, USA and.
  • Nagy PL; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
  • Tsang SH; Department of Ophthalmology and Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
  • Gouras P; Department of Ophthalmology and.
  • Collison FT; The Pangere Center for Hereditary Retinal Diseases, The Chicago Lighthouse for People Who are Blind or Visually Impaired, Chicago, IL, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Fishman GA; The Pangere Center for Hereditary Retinal Diseases, The Chicago Lighthouse for People Who are Blind or Visually Impaired, Chicago, IL, USA.
  • Allikmets R; Department of Ophthalmology and Department of Pathology and Cell Biology, Columbia University, New York, NY, USA rla22@columbia.edu.
Hum Mol Genet ; 23(25): 6797-806, 2014 Dec 20.
Article en En | MEDLINE | ID: mdl-25082829
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Transportadoras de Casetes de Unión a ATP / Sitios Genéticos / Degeneración Macular / Mutación Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2014 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Transportadoras de Casetes de Unión a ATP / Sitios Genéticos / Degeneración Macular / Mutación Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2014 Tipo del documento: Article