Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
Sanyanusin
P
P
Schimmenti
L A
LA
McNoe
T A
TA
Ward
T A
TA
Pierpont
M E
ME
Sullivan
M J
MJ
Dobyns
W B
WB
Eccles
M R
MR
D001483:Base Sequence; D003103:Coloboma / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008969:Molecular Sequence Data; D009900:Optic Nerve / Q000002:abnormalities*; D014718:Vesico-Ureteral Reflux / Q000235:genetics*
D017931:DNA Primers