TY  - GEN
AU  - Fradin,Mélanie
AU  - Colin,Estelle
AU  - Hannouche-Bared,Daniele
AU  - Audo,Isabelle
AU  - Sahel,Jose Alain
AU  - Biskup,Saskia
AU  - Carré,Wilfried
AU  - Ziegler,Alban
AU  - Wilhelm,Christian
AU  - Guichet,Agnès
AU  - Odent,Sylvie
AU  - Bonneau,Dominique
TI  - Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45
SN  - 1744-5094
PY  - 2017///1117
KW  - Codon, Nonsense
KW  - Cyclic Nucleotide-Gated Cation Channels
KW  - genetics
KW  - Electroretinography
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Pedigree
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Single Nucleotide
KW  - Retina
KW  - physiology
KW  - Retinitis Pigmentosa
KW  - diagnosis
KW  - Tomography, Optical Coherence
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.3109/13816810.2015.1087578
ER  -