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Article

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

American journal of human genetics - 10 Sept 2010

Bandah-Rozenfeld Dikla, Mizrahi-Meissonnier Liliana, Farhy Chen, Obolensky Alexey, Chowers Itay, Pe'er Jacob, Merin Saul, Ben-Yosef Tamar, Ashery-Padan Ruth, Banin Eyal, Sharon Dror

Abstract excerpt

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region on chromosome 2p15 in patients with autosomal-recessive RP (arRP). This region partially overlaps with RP28, a previously identified arRP locus. Sequence analysis of 12 candidate genes revealed three null mutations in...

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Identifiers

PMID: 20705279
DOI: 10.1016/j.ajhg.2010.07.022
PMCID: PMC2933343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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