Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family
- 1 January 2000
- journal article
- Published by Swets & Zeitlinger Publishers in Ophthalmic Genetics
- Vol. 21 (4) , 197-209
- https://doi.org/10.1076/1381-6810(200012)2141-hft197
Abstract
No abstract availableThis publication has 16 references indexed in Scilit:
- RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.Journal of Medical Genetics, 1997
- Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17pHuman Molecular Genetics, 1997
- A Gene for Autosomal Dominant Progressive Cone Dystrophy (CORD5) Maps to Chromosome 17p12–p13Genomics, 1995
- Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degenerationHuman Molecular Genetics, 1994
- Late onset dominant cone dystrophy with early blue cone involvement.Journal of Medical Genetics, 1992
- X linked progressive cone dystrophy with specific attention to carrier detection.Journal of Medical Genetics, 1992
- Cone and cone-rod dystrophies.Journal of Medical Genetics, 1992
- Deletion mapping of a retinal cone‐rod dystrophy: Assignment to 18q211American Journal of Medical Genetics, 1991
- Chromosome 6q deletions: A report of two additional cases and a review of the literatureAmerican Journal of Medical Genetics, 1990
- Cone Dysfunction SyndromesArchives of Ophthalmology (1950), 1963