Missense mutations in the PAX6 gene in aniridia

Investigative Ophthalmology and Visual Science

Volumn 39, Issue 13, 1998, Pages 2524-2528

  Azuma, Noriyuki ^a   Hotta, Yoshihiro ^b   Tanaka, Hisako ^c   Yamada, Masao ^d  

^a NATIONAL CHILDREN S HOSPITAL   (Japan)

^b JUNTENDO UNIVERSITY   (Japan)

^c Osaka City Medical Hospital   (Japan)

^d NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR PAX6; UNCLASSIFIED DRUG;

ADULT; ALLELE; ANIRIDIA; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE SEQUENCE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; ANIRIDIA; CHILD; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION, MISSENSE; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS;

EID: 0031736378     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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