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

10.1371/journal.pone.0027134

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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
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1620252024-11-10T10:06:56Z GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease 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. DUKE-NUS MEDICAL SCHOOL 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 galactosylceramidase 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 open angle glaucoma Comparative Genomic Hybridization Galactosylceramidase Gene Deletion Genetic Predisposition to Disease Glaucoma, Open-Angle Humans Real-Time Polymerase Chain Reaction 10.1371/journal.pone.0027134 PLoS ONE 6 11 e27134 2019-11-11T08:36:44Z 2019-11-11T08:36:44Z 2011 Article 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. (2011). GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease. PLoS ONE 6 (11) : e27134. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0027134 19326203 https://scholarbank.nus.edu.sg/handle/10635/162025 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20191101
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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 galactosylceramidase 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 open angle glaucoma Comparative Genomic Hybridization Galactosylceramidase Gene Deletion Genetic Predisposition to Disease Glaucoma, Open-Angle Humans Real-Time Polymerase Chain Reaction
spellingShingle	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 galactosylceramidase 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 open angle glaucoma Comparative Genomic Hybridization Galactosylceramidase Gene Deletion Genetic Predisposition to Disease Glaucoma, Open-Angle Humans Real-Time Polymerase Chain Reaction 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. GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease
description	10.1371/journal.pone.0027134
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL 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.
format	Article
author	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.
author_sort	Liu Y.
title	GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease
title_short	GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease
title_full	GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease
title_fullStr	GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease
title_full_unstemmed	GALC deletions increase the risk of primary Open-Angle Glaucoma: The role of mendelian variants in complex disease
title_sort	galc deletions increase the risk of primary open-angle glaucoma: the role of mendelian variants in complex disease
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/162025
_version_	1821199017384607744

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

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