A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
Graziano
Claudio
C
O. di Genetica Medica, Dipartimento di Medicina Interna, Cardioangiologia ed Epatologia, Università degli Studi di Bologna, Bologna, Italy.
D'Elia
Angela V
AV
Mazzanti
Laura
L
Moscano
Filomena
F
Guidelli Guidi
Simonetta
S
Scarano
Emanuela
E
Turchetti
Daniela
D
Franzoni
Emilio
E
Romeo
Giovanni
G
Damante
Giuseppe
G
Seri
Marco
M
D015783:Aniridia / Q000235:genetics*; D001259:Ataxia / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010290:Parents; D012097:Repressor Proteins / Q000235:genetics*
D018389:Codon, Nonsense; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins