Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia

10.1371/journal.pone.0072518

Saved in:

Bibliographic Details
Main Authors:	Dave A., Laurie K., Staffieri S.E., Taranath D., Mackey D.A., Mitchell P., Wang J.J., Craig J.E., Burdon K.P., Sharma S.
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	2019
Subjects:	ephrin A1 ephrin A5 article Australia autophosphorylation congenital cataract EPHA2 gene exome exon family history gene gene mutation gene sequence genetic disorder genetic screening genetic variability haplotype human microsatellite marker missense mutation phenotype population research protein domain protein motif protein phosphorylation protein protein interaction sequence alignment sequence analysis signal transduction single nucleotide polymorphism South Eastern Australia Cataract Cohort Studies Family Female Gene Frequency Genetic Diseases, Inborn Genetic Predisposition to Disease Humans Male Pedigree Point Mutation Receptor, EphA2
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161273
Tags:	Add Tag No Tags, Be the first to tag this record!
Institution:	National University of Singapore

id	sg-nus-scholar.10635-161273
record_format	dspace
spelling	sg-nus-scholar.10635-1612732024-11-09T06:38:29Z Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia Dave A. Laurie K. Staffieri S.E. Taranath D. Mackey D.A. Mitchell P. Wang J.J. Craig J.E. Burdon K.P. Sharma S. DUKE-NUS MEDICAL SCHOOL ephrin A1 ephrin A5 article Australia autophosphorylation congenital cataract EPHA2 gene exome exon family history gene gene mutation gene sequence genetic disorder genetic screening genetic variability haplotype human microsatellite marker missense mutation phenotype population research protein domain protein motif protein phosphorylation protein protein interaction sequence alignment sequence analysis signal transduction single nucleotide polymorphism South Eastern Australia Australia Cataract Cohort Studies Family Female Gene Frequency Genetic Diseases, Inborn Genetic Predisposition to Disease Humans Male Pedigree Point Mutation Receptor, EphA2 10.1371/journal.pone.0072518 PLoS ONE 8 8 e72518 2019-11-04T04:02:53Z 2019-11-04T04:02:53Z 2013 Article Dave A., Laurie K., Staffieri S.E., Taranath D., Mackey D.A., Mitchell P., Wang J.J., Craig J.E., Burdon K.P., Sharma S. (2013). Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia. PLoS ONE 8 (8) : e72518. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0072518 19326203 https://scholarbank.nus.edu.sg/handle/10635/161273 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	ephrin A1 ephrin A5 article Australia autophosphorylation congenital cataract EPHA2 gene exome exon family history gene gene mutation gene sequence genetic disorder genetic screening genetic variability haplotype human microsatellite marker missense mutation phenotype population research protein domain protein motif protein phosphorylation protein protein interaction sequence alignment sequence analysis signal transduction single nucleotide polymorphism South Eastern Australia Australia Cataract Cohort Studies Family Female Gene Frequency Genetic Diseases, Inborn Genetic Predisposition to Disease Humans Male Pedigree Point Mutation Receptor, EphA2
spellingShingle	ephrin A1 ephrin A5 article Australia autophosphorylation congenital cataract EPHA2 gene exome exon family history gene gene mutation gene sequence genetic disorder genetic screening genetic variability haplotype human microsatellite marker missense mutation phenotype population research protein domain protein motif protein phosphorylation protein protein interaction sequence alignment sequence analysis signal transduction single nucleotide polymorphism South Eastern Australia Australia Cataract Cohort Studies Family Female Gene Frequency Genetic Diseases, Inborn Genetic Predisposition to Disease Humans Male Pedigree Point Mutation Receptor, EphA2 Dave A. Laurie K. Staffieri S.E. Taranath D. Mackey D.A. Mitchell P. Wang J.J. Craig J.E. Burdon K.P. Sharma S. Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
description	10.1371/journal.pone.0072518
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Dave A. Laurie K. Staffieri S.E. Taranath D. Mackey D.A. Mitchell P. Wang J.J. Craig J.E. Burdon K.P. Sharma S.
format	Article
author	Dave A. Laurie K. Staffieri S.E. Taranath D. Mackey D.A. Mitchell P. Wang J.J. Craig J.E. Burdon K.P. Sharma S.
author_sort	Dave A.
title	Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
title_short	Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
title_full	Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
title_fullStr	Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
title_full_unstemmed	Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
title_sort	mutations in the epha2 gene are a major contributor to inherited cataracts in south-eastern australia
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/161273
_version_	1821225474676752384

Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia

Similar Items