Anna Wawrocka Susanne Kohl Britta Baumann Joanna Walczak-Sztulpa Katarzyna Wicher Anna Skorczyk-Werner Maciej R Krawczynski
Mol Vis
2014 Dec 23;20:1732-9.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/25558176/
Color Vision Defects / genetics Cyclic Nucleotide-Gated Cation Channels / genetics Mutation
Color Vision Defects / genetics Cyclic Nucleotide-Gated Cation Channels / genetics Mutation Case Reports Research Support, Non-U.S. Gov't Adult Base Sequence Child Codon, Nonsense Color Vision Defects / physiopathology DNA Mutational Analysis Electroretinography Female Frameshift Mutation Humans Male Pedigree Poland RNA Splice Sites Sequence Deletion CNGB3 protein, human Codon, Nonsense Cyclic Nucleotide-Gated Cation Channels RNA Splice Sites
PMC4279706
25558176
Five novel CNGB3 gene mutations in Polish patients with achromatopsia
2014