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Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1.
Jan 27
Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model
This study supports a role for CNGA1 as a disease gene for arRP and provides new insights on the pathobiology of cGMP-binding domain . . .
Dec 15, 2022
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