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A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.

Authors
  • Castori, Marco
  • Valente, Enza Maria
  • Clementi, Maurizio
  • Tormene, Alma Patrizia
  • Brancati, Francesco
  • Caputo, Viviana
  • Dallapiccola, Bruno
Type
Published Article
Journal
Investigative Ophthalmology & Visual Science
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Publication Date
Oct 01, 2005
Volume
46
Issue
10
Pages
3539–3544
Identifiers
PMID: 16186331
Source
Medline
License
Unknown

Abstract

The significant lod scores obtained and the absence of mutations in RDS, GUCA1A, and GUCA1B support the existence of a novel, yet unidentified gene responsible for retinal dystrophy within the chromosome 6 cluster.

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