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Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1

PURPOSE: In a cohort of 8 families (11 patients) with autosomal recessive retinitis pigmentosa (arRP), we clinically characterized disease associated with mutations in CNGB1. METHODS: Visual function was determined by measuring the patients’ visual acuity, dark- and light-adapted perimetry, and by f...

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Publicado en:Ophthalmic Genet
Autores principales: Radojevic, Bojana, Jones, Kaylie, Klein, Martin, Mauro-Herrera, Margarita, Kingsley, Ronald, Birch, David G., Bennett, Lea D.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7815954/
https://ncbi.nlm.nih.gov/pubmed/33465333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2020.1832532
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