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Article

The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

Molecular vision - 1 Jan 2020

Midgley Nicole, Roberts Lisa, Rebello George, Ramesar Raj

Abstract excerpt

Purpose: Seven founder mutations in ABCA4 underlie a large proportion of Stargardt disease in the South African Caucasian population of Afrikaner descent. The Quick 7 assay was locally developed to test for these specific mutations and is available through the National Health Laboratory Service. However, in 2017 it was suggested that one of these mutations, c.2588G>C (p.Gly863Ala), is only pathogenic when present...

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Identifiers

PMID: 32913387
PMCID: PMC7479065

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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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