Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa

IMPORTANCE: Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause. OBJECTIVE: To report olfactory function and the retinal phenotype in patients with biallelic mutations in CNGB1, a gene coding for a signal transduction channel subunit expressed in rod...

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Detalles Bibliográficos
Publicado en:JAMA Ophthalmol
Main Authors: Charbel Issa, Peter, Reuter, Peggy, Kühlewein, Laura, Birtel, Johannes, Gliem, Martin, Tropitzsch, Anke, Whitcroft, Katherine L., Bolz, Hanno J., Ishihara, Kenji, MacLaren, Robert E., Downes, Susan M., Oishi, Akio, Zrenner, Eberhart, Kohl, Susanne, Hummel, Thomas
Formato: Artigo
Idioma:Inglês
Publicado: American Medical Association 2018
Assuntos:
Original Investigation
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6136054/
https://ncbi.nlm.nih.gov/pubmed/29800053
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2018.1621
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