1-4 of 4
Authors: Martin J. Warren
Journal Article
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31 Get access
Human Molecular Genetics, Volume 11, Issue 25, 1 December 2002, Pages 3209–3219, https://doi.org/10.1093/hmg/11.25.3209
Published: 01 December 2002
Journal Article
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy Get access
Human Molecular Genetics, Volume 10, Issue 1, 1 January 2001, Pages 47–54, https://doi.org/10.1093/hmg/10.1.47
Published: 01 January 2001
Journal Article
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy Get access
Human Molecular Genetics, Volume 9, Issue 20, 12 December 2000, Pages 3065–3073, https://doi.org/10.1093/hmg/9.20.3065
Published: 12 December 2000
Journal Article
A Mutation in Guanylate Cyclase Activator 1A (GUCA1A) in an Autosomal Dominant Cone Dystrophy Pedigree Mapping to a New Locus on Chromosome 6p21.1 Get access
Human Molecular Genetics, Volume 7, Issue 2, February 1998, Pages 273–277, https://doi.org/10.1093/hmg/7.2.273
Published: 01 February 1998
