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Article

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

Ophthalmic genetics - 1 Dec 2003

Greenberg J, Roberts L, Ramesar R

Abstract excerpt

Having identified a disease-associated rhodopsin mutation in a patient with retinitis pigmentosa (RP), the issue is to address the question of whether to offer genetic testing to at-risk family members. Two members of a South African (SA) family, one of whom suffers from RP, as well as 54 unrelat...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14566652
DOI: 10.1076/opge.24.4.225.17235

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14566652-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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