Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.

Lin, Yuchen; Xu, Christine L; Velez, Gabriel; Yang, Jing; Tanaka, Akemi J; Breazzano, Mark P; Mahajan, Vinit B; Sparrow, Janet R; Tsang, Stephen H

Lin, Yuchen; Xu, Christine L; Velez, Gabriel; Yang, Jing; Tanaka, Akemi J; Breazzano, Mark P; Mahajan, Vinit B; Sparrow, Janet R; Tsang, Stephen H.

Afiliação

Lin Y; Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Xu CL; Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People's Republic of China.
Velez G; Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Yang J; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY, USA.
Tanaka AJ; Omics Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Breazzano MP; Medical Scientist Training Program, University of Iowa, Iowa City, IA, USA.
Mahajan VB; Omics Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Sparrow JR; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.
Tsang SH; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY, USA.

Doc Ophthalmol ; 140(1): 67-75, 2020 02.

Article em En | MEDLINE | ID: mdl-31538292

Assuntos

Proteínas do Olho/genética; Proteínas de Membrana/genética; Mutação; Retinose Pigmentar/genética; Adulto; Eletrorretinografia; Fundo de Olho; Humanos; Edema Macular/diagnóstico por imagem; Masculino; Retina/fisiopatologia; Retinose Pigmentar/diagnóstico por imagem; Retinose Pigmentar/fisiopatologia; Tomografia de Coerência Óptica/métodos; Acuidade Visual/fisiologia; Sequenciamento do Exoma

Palavras-chave

Autosomal recessive; REEP6; Retinitis pigmentosa; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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