Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.
Fradin, Mélanie
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. [electronic resource] - Ophthalmic genetics 09 2016 - 357-9 p. digital
Publication Type: Case Reports; Letter
1744-5094
10.3109/13816810.2015.1087578 doi
Codon, Nonsense
Cyclic Nucleotide-Gated Cation Channels--genetics
Electroretinography
Female
Homozygote
Humans
Male
Middle Aged
Pedigree
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Retina--physiology
Retinitis Pigmentosa--diagnosis
Tomography, Optical Coherence
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. [electronic resource] - Ophthalmic genetics 09 2016 - 357-9 p. digital
Publication Type: Case Reports; Letter
1744-5094
10.3109/13816810.2015.1087578 doi
Codon, Nonsense
Cyclic Nucleotide-Gated Cation Channels--genetics
Electroretinography
Female
Homozygote
Humans
Male
Middle Aged
Pedigree
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Retina--physiology
Retinitis Pigmentosa--diagnosis
Tomography, Optical Coherence