Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation.
Wang
Panfeng
P
Guo
Xiangming
X
Zhang
Qingjiong
Q
D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002648:Child; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009692:Nucleic Acid Heteroduplexes; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012162:Retinal Degeneration / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*
D018398:Homeodomain Proteins; D009692:Nucleic Acid Heteroduplexes; D015534:Trans-Activators; C109288:cone rod homeobox protein