A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly

Molecular Vision

Volumn 16, Issue , 2010, Pages 676-681

  Jia, Xiuhua ^a   Guo, Xiangming ^a   Jia, Xiaoyun ^a   Xiao, Xueshan ^a   Li, Shiqiang ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; CASE REPORT; CATARACT; CHINESE; CLINICAL FEATURE; CORNEA OPACITY; DISEASE SEVERITY; DNA EXTRACTION; ECHOGRAPHY; ELECTRORETINOGRAPHY; EYE SYNECHIA; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPOPLASIA; INFANT; INTRON; LEUKOCYTE; MALE; MICROPHTHALMIA; MUTATIONAL ANALYSIS; MYDRIASIS; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PATHOGENESIS; PETERS ANOMALY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SLIT LAMP; AMINO ACID SEQUENCE; ASIAN; CHEMISTRY; CHINA; EXON; EYE MALFORMATION; GENETICS; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PROTEIN TERTIARY STRUCTURE;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; ELECTRORETINOGRAPHY; EXONS; EYE ABNORMALITIES; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, TERTIARY; REPRESSOR PROTEINS;

EID: 77952296760     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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