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Article

Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.

Molecular vision - 2 Nov 2005

Gamundi María José, Hernan Imma, Maseras Miquel, Baiget Montserrat, Ayuso Carmen, Borrego Salud, Antiñolo Guillermo, Millán José María, Valverde Diana, Carballo Miguel

Abstract excerpt

PURPOSE: Only one mutation in the retinal fascin gene (FSCN2) has so far been associated with autosomal dominant retinitis pigmentosa (adRP) and macular dystrophy (adMD), in a Japanese population. Our study was designed to identify mutations in the FSCN2 gene among Spanish persons with adRP or adMD. METHODS: Denaturing gradient gel electrophoresis and direct genomic sequencing were used to evaluate the complete...

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Identifiers

PMID: 16280978

Genes

FSCN2

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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