Molecular analysis of a human PAX6 homeobox mutant

European Journal of Human Genetics

Volumn 14, Issue 6, 2006, Pages 744-751

  D'Elia, Angela Valentina ^a   Puppin, Cinzia ^a   Pellizzari, Lucia ^a   Pianta, Annalisa ^a   Bregant, Elisa ^a   Lonigro, Renata ^a   Tell, Gianluca ^a   Fogolari, Federico ^a   van Heyningen, Veronica ^b   Damante, Giuseppe ^a  

^a UNIVERSITY OF UDINE   (Italy)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Homeobox; Pax6; Transcription factor

Indexed keywords

ARGININE; DNA; HOMEODOMAIN PROTEIN; MUTANT PROTEIN; THREONINE; TRANSCRIPTION FACTOR PAX6; TRYPSIN;

ANIRIDIA; ARTICLE; CASE REPORT; CELL ASSAY; CHILD; CLINICAL FEATURE; DNA MODIFICATION; GEL; GENE DOSAGE; GENE LOCATION; GENETIC TRANSFECTION; HUMAN; IN VITRO STUDY; IRIS COLOBOMA; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEGRADATION; PROTEIN DNA BINDING; PROTEIN DOMAIN; SENSITIVITY ANALYSIS; STEADY STATE; WILD TYPE;

ANIMALS; ANIRIDIA; CELL LINE; DNA; EYE PROTEINS; GENE DOSAGE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MUTATION, MISSENSE; ORGANOGENESIS; PAIRED BOX TRANSCRIPTION FACTORS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; REPRESSOR PROTEINS;

EID: 33744479149     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201579     Document Type: Article

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