Yabin Chen Xiaoyun Jia Panfeng Wang Xueshan Xiao Shiqiang Li Xiangming Guo Qingjiong Zhang
Mol Vis
2013;19:292-302.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23401657/
GTP Phosphohydrolases / genetics Mutation Optic Atrophy, Autosomal Dominant / genetics
GTP Phosphohydrolases / genetics Mutation Optic Atrophy, Autosomal Dominant / genetics Case Reports Research Support, Non-U.S. Gov't Asian People / genetics Base Sequence Child, Preschool China Codon, Nonsense Cohort Studies DNA / genetics DNA Mutational Analysis Female Frameshift Mutation Genetic Carrier Screening Humans Male Mutation, Missense Pedigree Phenotype Protein Isoforms / genetics Codon, Nonsense Protein Isoforms DNA GTP Phosphohydrolases OPA1 protein, human
PMC3566897
23401657
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
2013