A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma

PLoS ONE

Volumn 8, Issue 12, 2013, Pages

  Guo, Hong ^a   Dai, Limeng ^a   Huang, Yanming ^a   Liao, Qiong ^a   Bai, Yun ^a  

^a THIRD MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHINESE; CHROMOSOME 11P; CHROMOSOME DELETION; CHROMOSOME SEGREGATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL NYSTAGMUS; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN GENOME; IRIS COLOBOMA; LINKAGE ANALYSIS; MALE; MICROARRAY ANALYSIS; PAX6 GENE; PHENOTYPE; POPULATION SIZE; PRESBYOPIA; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; CHINA; CHROMOSOME 11; CLINICAL TRIAL; COLOBOMA; FAMILY; GENETIC LINKAGE; GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

BASE SEQUENCE; CHINA; CHROMOSOMES, HUMAN, PAIR 11; COLOBOMA; EYE PROTEINS; FAMILY; FEMALE; GENETIC LINKAGE; HOMEODOMAIN PROTEINS; HUMANS; MALE; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; REPRESSOR PROTEINS; SEQUENCE DELETION;

EID: 84892580885     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0083073     Document Type: Article

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