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Article

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

Investigative ophthalmology & visual science - 1 Dec 2004

Kondo Hiroyuki, Qin Minghui, Mizota Atsushi, Kondo Mineo, Hayashi Hideyuki, Hayashi Ken, Oshima Kenji, Tahira Tomoko, Hayashi Kenshi

Abstract excerpt

PURPOSE: To identify possible mutations in known candidate genes in patients with autosomal recessive (ar) and simplex retinitis pigmentosa (RP), by using an established strategy of flexible, multiplexed, microsatellite-based homozygosity mapping. METHODS: A total of 78 microsatellite markers corresponding to 16 genes known to be responsible for arRP were selected and used in 18 multiplex amplifications, followed...

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Source

Identifiers

PMID: 15557452
DOI: 10.1167/iovs.04-0544

Genes

CNGB1
RPE65
TULP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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