A novel PAX6 mutation in Chinese patients with severe congenital aniridia

Current Eye Research

Volumn 37, Issue 10, 2012, Pages 879-883

  He, Yan ^a   Pan, Zhiqiang ^a   Luo, Fei ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Aniridia; Congenital; Mutation; Pax6

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR PAX6;

ADULT; ANIRIDIA; ARTICLE; CASE REPORT; CATARACT; CHINESE; CONGENITAL NYSTAGMUS; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; EXON; FEMALE; FOVEA HYPOPLASIA; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DISEASE; STOP CODON; VISUAL ACUITY;

ANIRIDIA; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CODON, NONSENSE; EYE PROTEINS; FAMILY HEALTH; FEMALE; FOVEA CENTRALIS; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; NYSTAGMUS, PATHOLOGIC; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; REPRESSOR PROTEINS; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84865788336     PISSN: 02713683     EISSN: 14602202     Source Type: Journal    
DOI: 10.3109/02713683.2012.688165     Document Type: Article

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