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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Bibliografiska uppgifter
I publikationen:JAMA Ophthalmol
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Medical Association 2018
Ämnen:
Original Investigation
Länkar: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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