Mutation of PAX2 in two siblings with renal-coloboma syndrome.
Sanyanusin
P
P
Department of Biochemistry, University of Otago, Dunedin, New Zealand.
McNoe
L A
LA
Sullivan
M J
MJ
Weaver
R G
RG
Eccles
M R
MR
D003103:Coloboma / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D009900:Optic Nerve / Q000002:abnormalities*; D051762:PAX2 Transcription Factor; D010857:Pigment Epithelium of Eye / Q000002:abnormalities*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors