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Article

The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Gene - 12 May 2004

Briscoe Adriana D, Gaur Charu, Kumar Sudhir

Abstract excerpt

Mutations in rhodopsin, the visual pigment found in rod cells, account for a large fraction of genetic changes underlying the human retinal diseases, Retinitis Pigmentosa (RP). The availability of rhodopsin sequences from a large number of vertebrates has allowed us to investigate factors important in the development of RP by contrasting interspecific differences (long-term evolutionary patterns) with RP disease...

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Source

Identifiers

PMID: 15145060
DOI: 10.1016/j.gene.2004.02.037

Genes

ERG

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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