Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Bryant, Laura; Lozynska, Olga; Maguire, Albert M; Aleman, Tomas S; Bennett, Jean

Bryant, Laura; Lozynska, Olga; Maguire, Albert M; Aleman, Tomas S; Bennett, Jean.

Afiliación

Bryant L; Center for Advanced Retinal and Ocular Therapeutics (CAROT), FM Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Lozynska O; Center for Advanced Retinal and Ocular Therapeutics (CAROT), FM Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Maguire AM; Center for Advanced Retinal and Ocular Therapeutics (CAROT), FM Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Aleman TS; Department of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Bennett J; Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Clin Ophthalmol ; 12: 49-63, 2018.

Article en En | MEDLINE | ID: mdl-29343940

Palabras clave

Leber congenital amaurosis; cone-rod dystrophy; genetic diagnosis; retinal degeneration; retinitis pigmentosa; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Clin Ophthalmol Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Nueva Zelanda

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