Shagun Aggarwal Worapoj Jinda Chanin Limwongse La-ongsri Atchaneeyasakul Shubha R Phadke
Mol Vis
2011;17:1305-9.
CC BY
https://pubmed.ncbi.nlm.nih.gov/21633710/
Aniridia / genetics Choroid Diseases / genetics Eye Proteins / genetics Genes, Dominant Homeodomain Proteins / genetics Mutation Paired Box Transcription Factors / genetics Repressor Proteins / genetics Retinal Degeneration / genetics
Aniridia / genetics Choroid Diseases / genetics Eye Proteins / genetics Genes, Dominant Homeodomain Proteins / genetics Mutation Paired Box Transcription Factors / genetics Repressor Proteins / genetics Retinal Degeneration / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Heterozygote Humans Introns Male Middle Aged PAX6 Transcription Factor Pedigree Polymorphism, Single-Stranded Conformational Sequence Analysis, DNA Young Adult Eye Proteins Homeodomain Proteins PAX6 Transcription Factor PAX6 protein, human Paired Box Transcription Factors Repressor Proteins
PMC3103739
21633710
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
2011