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Article

Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2003

Weigell-Weber Maike, Sarra Gian-Marco, Kotzot Dieter, Sandkuijl Lodewijk, Messmer Elmar, Hergersberg Martin

Abstract excerpt

OBJECTIVES: To localize the gene that causes an autosomal recessively inherited vitreoretinal dystrophy that has not been described, to our knowledge, and to analyze a candidate gene mapped to 22q13 (fibulin-1 [FBLN1]). METHODS: Homozygosity mapping with 500 microsatellite markers spread over the...

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Source

Identifiers

PMID: 12912698
DOI: 10.1001/archopht.121.8.1184

Genes

FBLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12912698-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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