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Article

Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations.

Clinical chemistry and laboratory medicine - 9 Jan 2012

Stenirri Stefania, Santambrogio Paolo, Setaccioli Marco, Erba Benedetta Gaia, Pia Manitto Maria, Rovida Ermanna, Ferrari Maurizio, Levi Sonia, Cremonesi Laura

Abstract excerpt

BACKGROUND: Age-related macular degeneration (AMD) is a multifactorial disease for which an involvement of alterations in the retinal ABC transporter gene (ABCA4) is still debated. Oxidative stress in retinal pigment epithelial cells has been postulated to contribute to the pathogenesis of the di...

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Source

Identifiers

PMID: 22706241
DOI: 10.1515/cclm-2011-0854

Genes

ABCA4
FTMT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22706241-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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