A novel PAX6 gene mutation in a Chinese family with aniridia

Molecular Vision

Volumn 11, Issue , 2005, Pages 335-337

  Song, Shujuan ^a   Liu, Yingzhi ^b   Guo, Shuhua ^c   Zhang, Lirong ^a,d   Zhang, Xiaoyan ^a,d   Wang, Shuling ^a,d   Lu, Aili ^a,d   Li, Lingsong ^a,d  

^a PEKING UNIVERSITY   (China)

^b Chaoyang Central Hospital   (China)

^c The Dehong Hospital   (China)

^d PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR PAX6;

ADULT; AMINO ACID SEQUENCE; ANIRIDIA; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHINESE; CONGENITAL CATARACT; EXON; FAMILY; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ADULT; ANIRIDIA; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; HOMEODOMAIN PROTEINS; HUMANS; MALE; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 25444520061     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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