article_metadata: Pablo Romero Felipe Sanhueza Pamela Lopez Loreto Reyes Luisa Herrera
article_metadata: Mol Vis
article_metadata: 2011;17:1929-39.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/21850167/
article_metadata: Eye / metabolism Glaucoma, Open-Angle / genetics LIM-Homeodomain Proteins / genetics Nail-Patella Syndrome / genetics Ocular Hypertension / genetics Transcription Factors / genetics
article_metadata: Eye / metabolism Glaucoma, Open-Angle / genetics LIM-Homeodomain Proteins / genetics Nail-Patella Syndrome / genetics Ocular Hypertension / genetics Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Adult Age of Onset Base Sequence Chile DNA / genetics DNA Mutational Analysis Exons Eye / physiopathology Female Glaucoma, Open-Angle / complications Glaucoma, Open-Angle / physiopathology Heterozygote Humans Male Middle Aged Molecular Sequence Data Mutation, Missense Nail-Patella Syndrome / complications Nail-Patella Syndrome / physiopathology Nerve Fibers / metabolism Nerve Fibers / pathology Ocular Hypertension / complications Ocular Hypertension / physiopathology Pedigree Phenotype Polymerase Chain Reaction Vision Tests LIM homeobox transcription factor 1 beta LIM-Homeodomain Proteins Transcription Factors DNA
article_metadata: PMC3154131
article_metadata: 21850167
article_metadata: c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma
article_metadata: 2011