High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

PLoS ONE

Volumn 7, Issue 9, 2012, Pages

  Liskova, Petra ^a,b,c   Gwilliam, Rhian ^d   Filipec, Martin ^e   Jirsova, Katerina ^a   Reinstein Merjava, Stanislava ^a   Deloukas, Panos ^d   Webb, Tom R ^c   Bhattacharya, Shomi S ^c   Ebenezer, Neil D ^c   Morris, Alex G ^f   Hardcastle, Alison J ^c  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e European Eye Clinic Lexum   (Czech Republic)

^f HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 20P; CHROMOSOME 20Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CORNEA DYSTROPHY; CZECH REPUBLIC; EXON; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; PLESIOMORPHY; PREVALENCE; ZINC FINGER E BOX BINDING HOMEOBOX 1 GENE;

CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; COMPARATIVE GENOMIC HYBRIDIZATION; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; CZECH REPUBLIC; EXONS; FEMALE; FOUNDER EFFECT; GENES, DOMINANT; GENETIC HETEROGENEITY; GENETIC LOCI; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MUTATION; PEDIGREE; PREVALENCE; REPRESSOR PROTEINS;

EID: 84866710520     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0045495     Document Type: Article

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