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Article

Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.

Biochemical and biophysical research communications - 12 Oct 2007

Muraki-Oda Sanae, Toyoda Futoshi, Okada Akira, Tanabe Shoko, Yamade Shinichi, Ueyama Hisao, Matsuura Hiroshi, Ohji Masahito

Abstract excerpt

Thirty-nine missense mutations, which had been identified in rod monochromacy or related disorders, in the CNGA3 subunit of cone photoreceptor cGMP-gated channels were analyzed. HEK293 cells were transfected with cDNA of the human CNGA3 subunit harboring each of these mutations in an expression vector. Patch-clamp recordings demonstrated that 32 of the 39 mutants did not show cGMP-activated current, suggesting...

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Source

Identifiers

PMID: 17693388
DOI: 10.1016/j.bbrc.2007.07.152

Genes

CNGA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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