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Article

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

American journal of human genetics - 1 Nov 2008

Collin Rob W J, Littink Karin W, Klevering B Jeroen, van den Born L Ingeborgh, Koenekoop Robert K, Zonneveld Marijke N, Blokland Ellen A W, Strom Tim M, Hoyng Carel B, den Hollander Anneke I, Cremers Frans P M

Abstract excerpt

In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed for detection of regions harboring genes that might be causative for RP. In one affected sib pair, a shared homozygous region of 5.0 Mb was identified on chromosome 6, within the RP25 locus. One of the genes residing in this interval was the retina-expressed gene EGFL11. Several genes resembling EGFL11 were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 18976725
DOI: 10.1016/j.ajhg.2008.10.014
PMCID: PMC2668042

Genes

EYS
EGF

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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Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.PMID 18976725Read ↗

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