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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Vydáno v:Mol Vis
Hlavní autoři: Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2014
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4279706/
https://ncbi.nlm.nih.gov/pubmed/25558176
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