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Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas, Pooja; Duncan, Jacque L; Maranhao, Bruno; Kozak, Igor; Branham, Kari; Gabriel, Luis; Lin, Jonathan H; Barteselli, Giulio; Navani, Mili; Suk, John; Parke, Michelle; Schlechter, Catherine; Weleber, Richard G; Heckenlively, John R; Dagnelie, Gislin; Lee, Pauline; Riazuddin, S Amer; Ayyagari, Radha.
Afiliación
  • Biswas P; Shiley Eye Institute, University of California San Diego, La Jolla, California.
  • Duncan JL; Ophthalmology, University of California San Francisco, San Francisco, California.
  • Maranhao B; Shiley Eye Institute, University of California San Diego, La Jolla, California.
  • Kozak I; King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
  • Branham K; Ophthalmology & Visual Science, University of Michigan Kellogg Eye Center, Ann Arbor, Michigan.
  • Gabriel L; Genetics and Ophthalmology, Genelabor, Goiânia, Brazil.
  • Lin JH; Shiley Eye Institute, University of California San Diego, La Jolla, California.
  • Barteselli G; Shiley Eye Institute, University of California San Diego, La Jolla, California.
  • Navani M; Shiley Eye Institute, University of California San Diego, La Jolla, California.
  • Suk J; Shiley Eye Institute, University of California San Diego, La Jolla, California.
  • Parke M; Shiley Eye Institute, University of California San Diego, La Jolla, California.
  • Schlechter C; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon; and.
  • Weleber RG; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon; and.
  • Heckenlively JR; Ophthalmology & Visual Science, University of Michigan Kellogg Eye Center, Ann Arbor, Michigan.
  • Dagnelie G; Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Lee P; Shiley Eye Institute, University of California San Diego, La Jolla, California.
  • Riazuddin SA; Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Ayyagari R; Shiley Eye Institute, University of California San Diego, La Jolla, California; rayyagari@ucsd.edu.
Physiol Genomics ; 49(4): 216-229, 2017 Apr 01.
Article en En | MEDLINE | ID: mdl-28130426

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Degeneración Retiniana / Exoma / Genotipo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Physiol Genomics Asunto de la revista: BIOLOGIA MOLECULAR Año: 2017 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Degeneración Retiniana / Exoma / Genotipo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Physiol Genomics Asunto de la revista: BIOLOGIA MOLECULAR Año: 2017 Tipo del documento: Article