Achromatopsia caused by novel missense mutations in the CNGA3 gene.
Chen, Xi-Teng; Huang, Hui; Chen, Yan-Hua; Dong, Li-Jie; Li, Xiao-Rong; Zhang, Xiao-Min.
Int J Ophthalmol
; 8(5): 910-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26558200
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
Achromatopsia: a review.