Five novel CNGB3 gene mutations in Polish patients with achromatopsia

PURPOSE: To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. METHODS: In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuity testing, color vision testing, and full-field...

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Publicado en:Mol Vis
Autores principales: Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4279706/
https://ncbi.nlm.nih.gov/pubmed/25558176
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