PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India

Ophthalmic Genetics

Volumn 24, Issue 3, 2003, Pages 161-165

  Dharmaraj, Neeraja ^a   Reddy, Aramati B M ^a   Kiran, Velamakanni S ^a   Mandal, Anil K ^b   Panicker, Shirly G ^a   Chakrabarti, Subhabrata ^a,b  

^a Hyderabad Eye Research Foundation   (India)

^b L V PRASAD EYE INSTITUTE   (India)

Author keywords

Aniridia; Haploinsufficiency; Mutation; PAX6 gene; Phenotype

Indexed keywords

PROLINE; SERINE; THREONINE; TRANSCRIPTION FACTOR PAX6;

ANIRIDIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE; GENE MUTATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HAPLOTYPE; HUMAN; HUMAN CELL; INDIA; INTRON; INTRONIC POLYMORPHISM; MOLECULAR GENETICS; NONSENSE MUTATION; PAX6 GENE; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANIRIDIA; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INDIA; INTRAOCULAR PRESSURE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS;

EID: 0043207516     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.24.3.161.15607     Document Type: Article

References (5)

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