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Human Molecular Genetics|January 4, 2001
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophyR J Newbold, E C Deery, C E Walker, et al.Human Molecular Genetics|July 1, 1996
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16C Y Gregory, K Evans, S D Wijesuriya, et al.Eye (London, England)|June 27, 2015
Diverse clinical phenotypes associated with a nonsense mutation in FAM161AA M Rose, P Sergouniotis, G Alfano, et al.Clinical Genetics|April 19, 2003
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UKD C Blaydon, R F Mueller, T P Hutchin, et al.The British Journal of Ophthalmology|May 1, 1994
Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding siteS L Owens, F W Fitzke, C F Inglehearn, et al.Gene Therapy|February 4, 1999
Co-injection of adenovirus expressing CTLA4-Ig prolongs adenovirally mediated lacZ reporter gene expression in the mouse retinaR R Ali, M B Reichel, A P Byrnes, et al.The British Journal of Ophthalmology|August 1, 1992
Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutationA T Moore, F W Fitzke, C M Kemp, et al.Journal of Medical Genetics|November 1, 1994
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 lociM A Aldred, P W Teague, M Jay, et al.American Journal of Human Genetics|April 1, 1994
Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9)C F Inglehearn, T J Keen, M al-Maghtheh, et al.The British Journal of Ophthalmology|January 25, 2003
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphylomaM A Reddy, P J Francis, V Berry, et al.Pageof 18