Related references
Note: Only part of the references are listed.Retinal Structure and Function in Achromatopsia Implications for Gene Therapy
Venki Sundaram et al.
OPHTHALMOLOGY (2014)
Identification of CNGA3 Mutations in 46 Families Common Cause of Achromatopsia and Cone-Rod Dystrophies in Chinese Patients
Shiqiang Li et al.
JAMA OPHTHALMOLOGY (2014)
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
Susanne Kohl et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy
Livia S. Carvalho et al.
HUMAN MOLECULAR GENETICS (2011)
Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3
Muhammad Arif Nadeem Saqib et al.
JAPANESE JOURNAL OF OPHTHALMOLOGY (2011)
Photoreceptor Structure and Function in Patients with Congenital Achromatopsia
Mohamed A. Genead et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Dissecting the Pathogenic Mechanisms of Mutations in the Pore Region of the Human Cone Photoreceptor Cyclic Nucleotide-Gated Channel
Katja Koeppen et al.
HUMAN MUTATION (2010)
Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
Alberta A. H. J. Thiadens et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
ISCEV Standard for full-field clinical electroretinography (2008 update)
M. F. Marmor et al.
DOCUMENTA OPHTHALMOLOGICA (2009)
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3R427C and A3R563C
Katja Koeppen et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2008)
Mutations in CNGA3 Impair Trafficking or Function of Cone Cyclic Nucleotide-Gated Channels, Resulting in Achromatopsia
Peggy Reuter et al.
HUMAN MUTATION (2008)
Phototransduction, dark adaptation, and rhodopsin regeneration - The Proctor Lecture
Trevor D. Lamb et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia
Satoshi Goto-Omoto et al.
VISUAL NEUROSCIENCE (2006)
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
S Kohl et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
KM Nishiguchi et al.
HUMAN MUTATION (2005)
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3 -: art. no. e20
S Johnson et al.
JOURNAL OF MEDICAL GENETICS (2004)
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)
IA Aligianis et al.
JOURNAL OF MEDICAL GENETICS (2002)
CNGA3 mutations in hereditary cone photoreceptor disorders
B Wissinger et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
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
S Kohl et al.
HUMAN MOLECULAR GENETICS (2000)