Linda M Reis Rebecca C Tyler Elena V Semina
Mol Vis
2014 Jun 13;20:836-42.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/24940039/
Cataract / congenital Cataract / genetics Mutation / genetics Receptor, EphA2 / chemistry Receptor, EphA2 / genetics
Cataract / congenital Cataract / genetics Mutation / genetics Receptor, EphA2 / chemistry Receptor, EphA2 / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Alleles Amino Acid Sequence Base Sequence Child Child, Preschool Chromosome Segregation / genetics Exome / genetics Family Female Humans Infant Infant, Newborn Male Molecular Sequence Data Pedigree Sequence Analysis, DNA Receptor, EphA2
PMC4057250
24940039
Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract
2014