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

Authors :
Gamundi, M. J.
Hernan, I.
Maseras, M.
Baiget, M.
Carmen Ayuso
Borrego, S.
Antiñolo, G.
Millán, J. M.
Valverde, D.
Carballo, M.
Source :
Scopus-Elsevier, MOLECULAR VISION, r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe, instname

Abstract

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.

Details

ISSN :
10900535
Database :
OpenAIRE
Journal :
Scopus-Elsevier, MOLECULAR VISION, r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe, instname
Accession number :
edsair.dedup.wf.001..16f7cf2d6df8e0bf4462476df7659b3e