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Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.

DNA and cell biology - 1 Dec 2014

Yücel-Yılmaz Didem, Tarlan Berçin, Kıratlı Hayyam, Ozgül Rıza Köksal

Abstract excerpt

Leber congenital amaurosis (LCA) causes severe visual impairment and blindness very early in life. Mutant alleles of several genes acting in different pathways, of which all have critical roles for normal retinal function, were involved in LCA development. The purpose of this study was to use genome-wide genotyping to identify LCA-causing loci in two Turkish families. Genome-wide genotyping and haplotype analysis...

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Source

Identifiers

PMID: 25148430
DOI: 10.1089/dna.2014.2554

Genes

AIPL1
RDH12

Variants

Provenance

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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