A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

[1]  J. Beavo,et al.  Characterization of a bovine cone photoreceptor phosphodiesterase purified by cyclic GMP-sepharose chromatography. , 1988, The Journal of biological chemistry.

[2]  I. Maumenee,et al.  Genetic basis of total colourblindness among the Pingelapese islanders , 2000, Nature Genetics.

[3]  C. Klaver,et al.  Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. , 2010, Investigative ophthalmology & visual science.

[4]  M. Mochizuki,et al.  FOXP3+ CD25+ T Cells Induced by Ocular Pigment Epihelium Display Regulatory Phenotype and Aquire Regulatory Functions , 2006 .

[5]  D. Hunt,et al.  Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. , 2006, American journal of human genetics.

[6]  C. Klaver,et al.  Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. , 2009, American journal of human genetics.

[7]  T. Lamb,et al.  Phototransduction, dark adaptation, and rhodopsin regeneration the proctor lecture. , 2006, Investigative ophthalmology & visual science.

[8]  S. Shalev,et al.  Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. , 2010, American journal of human genetics.

[9]  P. Sieving,et al.  Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. , 2000, Human molecular genetics.

[10]  S. Bolz,et al.  A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene , 2009, Proceedings of the National Academy of Sciences.

[11]  E. Zrenner,et al.  Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. , 2011, Human molecular genetics.

[12]  J. Hurley,et al.  A phosphodiesterase inhibitor specific to a subset of bovine retinal cones. , 1990, The Journal of biological chemistry.

[13]  P. Gouras,et al.  Retinal Degeneration in Mice Lacking the γ Subunit of the Rod cGMP Phosphodiesterase , 1996, Science.

[14]  G. Fishman,et al.  A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. , 2005, Ophthalmology.

[15]  A. Schaffer.  Faculty Opinions recommendation of Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). , 2002 .

[16]  S. Jacobson,et al.  Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. , 2002, American journal of human genetics.

[17]  T. Mohandas,et al.  Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina. , 1990, Gene.

[18]  S. Jacobson,et al.  Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel , 1998, Nature Genetics.

[19]  E. Zrenner,et al.  Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. , 2008, Investigative ophthalmology & visual science.

[20]  P. Gouras,et al.  Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase. , 1996, Science.

[21]  J. Lisman,et al.  Support for the equivalent light hypothesis for RP , 1995, Nature Medicine.