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Molecular Cell|August 14, 1998
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophyI Sokal, N Li, I Surgucheva, et al.The British Journal of Ophthalmology|January 25, 2005
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 geneP K F Addison, V Berry, A C W Ionides, et al.Journal of Medical Genetics|October 3, 1999
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophiesA M Payne, S M Downes, D A Bessant, et al.Investigative Ophthalmology & Visual Science|May 31, 2001
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani familyA Hameed, S Khaliq, M Ismail, et al.Genomics|November 1, 1995
Regional assignment of 30 expressed sequence tags on human chromosome 7 using a somatic cell hybrid panelR J Patel, T J Keen, K H Grzeschik, et al.Annals of Human Genetics|May 31, 2008
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked familiesI Barragán, M M Abd El-Aziz, S Borrego, et al.Cell Death and Differentiation|April 14, 1999
High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient miceM B Reichel, R R Ali, F D'Esposito, et al.The British Journal of Ophthalmology|July 22, 1999
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32D A Bessant, K Anwar, S Khaliq, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|April 1, 1995
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS geneR Y Kim, H Dollfus, T J Keen, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1993
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5R Y Kim, M al-Maghtheh, F W Fitzke, et al.Pageof 18