Article

Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model

2022-08-12

Abstract excerpt

<h4>ABSTRACT</h4> Retinitis pigmentosa is a group of progressive inherited retinal dystrophies that may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. In a family suffering from retinitis pigmentosa, we identified a missense variation in CNGA1 affecting the cyclic nucleotide binding domain (CNBD) and characterized a mouse model developed with mutated CNBD. A gene p...

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Literature Corpus work: 331659bc-2ec6-5aa4-985f-7d365db9437e
DOI: 10.1101/2022.08.10.22278420

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