PAX6 gene variations associated with aniridia in south India

BMC Medical Genetics

Volumn 5, Issue , 2004, Pages

  Neethirajan, Guruswamy ^a   Krishnadas, Subbaiah Ramasamy ^b   Vijayalakshmi, Perumalsamy ^b   Shashikant, Shetty ^b   Sundaresan, Periasamy ^a  

^a ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^b ARAVIND EYE HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYSTEINE; GENOMIC DNA; GUANINE; PROLINE; SERINE; THREONINE; TRANSCRIPTION FACTOR PAX6; TRYPTOPHAN;

ADOLESCENT; ADULT; ALLELE; ANIRIDIA; ARTICLE; CHILD; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA ISOLATION; ETHNIC GROUP; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYPOTHESIS; INDIA; INFANT; INTRON; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POPULATION GENETICS; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ADOLESCENT; ADULT; ALLELES; ANIRIDIA; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FAMILY HEALTH; FEMALE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INDIA; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS;

EID: 2542427697     PISSN: 14712350     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2350-5-9     Document Type: Article

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