GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.
DNA copy number variants (CNVs) have been reported in many human diseases including autism and schizophrenia. Primary Open Angle Glaucoma (POAG) is a complex adult-onset disorder characterized by progressive optic neuropathy and vision loss. Previous studies have identified rare CNVs in POAG; howeve...
Main Authors: | Yutao Liu, Jason Gibson, Joshua Wheeler, Lydia Coulter Kwee, Cecile M Santiago-Turla, Stephen K Akafo, Paul R Lichter, Douglas E Gaasterland, Sayoko E Moroi, Pratap Challa, Leon W Herndon, Christopher A Girkin, Donald L Budenz, Julia E Richards, R Rand Allingham, Michael A Hauser |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2011-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3208571?pdf=render |
Similar Items
-
Correction: GALC Deletions Increase the Risk of Primary Open-Angle Glaucoma: The Role of Mendelian Variants in Complex Disease
Published: (2014-01-01) -
Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.
by: Kristy R Crooks, et al.
Published: (2011-01-01) -
GALC Triggers Tumorigenicity of Colorectal Cancer via Senescent Fibroblasts
by: Mengdi Yang, et al.
Published: (2020-04-01) -
The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure
by: Chris H. Hill, et al.
Published: (2018-01-01) -
Reliable and Fast Genotyping Protocol for Galactosylceramidase (Galc) in the Twitcher (Twi) Mouse
by: Sara Carpi, et al.
Published: (2022-12-01)