GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease

• Main Authors: Liu Y., Gibson J., Wheeler J., Kwee L.C., Santiago-Turla C.M., Akafo S.K., Lichter P.R., Gaasterland D.E., Moroi S.E., Challa P., Herndon L.W., Girkin C.A., Budenz D.L., Richards J.E., Allingham R.R., Hauser M.A.
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: 2019
• Subjects: aldehyde dehydrogenase 1 family member A2; cell protein; ciliary rootlet coiled coil rootlletin protein; eyes absent 1 homolog 1 protein; galactosylceramidase; RAS p21 protein activator 4; unclassified drug; adult; article; comparative genomic hybridization; controlled study; copy number variation; enzyme activity; galactosylceramidase gene; gene; gene deletion; gene function; gene loss; gene replication; genetic association; genetic risk; genotype; heterozygosity loss; human; open angle glaucoma; real time polymerase chain reaction; risk assessment; single nucleotide polymorphism; validation process; genetic predisposition; genetics; Comparative Genomic Hybridization; Galactosylceramidase; Gene Deletion; Genetic Predisposition to Disease; Glaucoma, Open-Angle; Humans; Real-Time Polymerase Chain Reaction
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/162025
• Institution: National University of Singapore

10.1371/journal.pone.0027134