Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 5, 2008, Pages 558-569

  Robinson, David O ^a,b   Howarth, Rachel J ^a   Williamson, Kathleen A ^c   Van Heyningen, Veronica ^c   Beal, Sarah J ^a   Crolla, John A ^a,b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Aniridia; FISH; PAX6

Indexed keywords

TRANSCRIPTION FACTOR PAX6; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ADOLESCENT; ADULT; AGED; ANIRIDIA; ARTICLE; CHILD; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MALFORMATION SYNDROME; PRIORITY JOURNAL; WAGR SYNDROME; CHROMOSOME 11; GENETICS; KARYOTYPING; MOSAICISM; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS;

ANIRIDIA; CHROMOSOMES, HUMAN, PAIR 11; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MOSAICISM; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; REPRESSOR PROTEINS; SEQUENCE ANALYSIS;

EID: 43049147169     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32209     Document Type: Article

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