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

PLoS ONE

Volumn 8, Issue 8, 2013, Pages

  Dave, Alpana ^a   Laurie, Kate ^a   Staffieri, Sandra E ^b,c   Taranath, Deepa ^a   Mackey, David A ^d,e   Mitchell, Paul ^f   Wang, Jie Jin ^f   Craig, Jamie E ^a   Burdon, Kathryn P ^a   Sharma, Shiwani ^a  

^a FLINDERS UNIVERSITY   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e UNIVERSITY OF TASMANIA   (Australia)

^f UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

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;

EID: 84883183443     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0072518     Document Type: Article

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