article_metadata: Shagun Aggarwal Worapoj Jinda Chanin Limwongse La-ongsri Atchaneeyasakul Shubha R Phadke
article_metadata: Mol Vis
article_metadata: 2011;17:1305-9.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/21633710/
article_metadata: 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
article_metadata: 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
article_metadata: PMC3103739
article_metadata: 21633710
article_metadata: Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
article_metadata: 2011