Associated Papers
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M et al.
Human Mutation, 2021
Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2018
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM et al.
The Journal of Clinical Investigation, 2018
29202463 (PubMed )
Supplement: jci-128-95161-s001.pdf
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.
Fradin M et al.
Ophthalmic Genetics, 2016
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y et al.
Human Genetics, 2014
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