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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: American Medical Association 2018
Fag:
Original Investigation
Online adgang: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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