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Article

Familial discordance in Stargardt disease.

Molecular vision - 1 Jan 2012

Burke Tomas R, Tsang Stephen H, Zernant Jana, Smith R Theodore, Allikmets Rando

Abstract excerpt

PURPOSE: To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene. METHODS: Five me...

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Source

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Identifiers

PMID: 22312191
PMCID: PMC3272278

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22312191-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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