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Article

Association between genotype and phenotype in families with mutations in the ABCA4 gene.

Molecular vision - 1 Jan 2014

Kjellström Ulrika

Abstract excerpt

PURPOSE: To investigate the genotype and phenotype in families with adenosine triphosphate-binding cassette, sub-family A, member 4 (ABCA4)-associated retinal degeneration. METHODS: Three families with at least one family member with known homozygous or compound heterozygote mutations in the ABCA...

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Identifiers

PMID: 24453473
PMCID: PMC3892680

Genes

ABCA4
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24453473-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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