Gene: [10q2/PAX2] paired box homeotic gene 2; optic nerve coloboma with renal disease (ONCR; MIM:120330); [ONCR ]
|
COM |
Narahara-1997 refined the regional mapping of the PAX2 gene to the junction of bands 10q24.3 and 10q25.1." |
|
PAT |
Sanyanusin-1995a demonstrated a mutation of PAX2 gene in two siblings with renal-coloboma syndrome." |
|
REF |
LOC,MUT,ABR "Narahara K &: J Med Genet, 34, 213-216, 1997 LOC,MAP "Nikali K &: Genomics, 39, N2, 185-191, 1997 PRO,LOC "Pilz AJ &: Mammal Genome, 4, 78-82, 1993 CLO,SEQ,GEN "Sanyanusin P &: Genomics, 35, 258-261, 1996 MUT "Sanyanusin P &: Hum Mol Genet, 4, 2183-2184, 1995a MUT "Sanyanusin P &: Nature Genet, 9, 358-364, 1995b PAT "Schimmenti LA &: Am J Med Genet, 59, 204-208, 1995 LOC "Stapleton P &: Nature Genet, 3, N4 (Apr), 292-298, 1993 |
|
KEY |
trc, ren |
|
CLA |
coding, basic |
|
LOC |
10 q24.3-25.1 |
|
MIM |
MIM: 167409 |
|
SYN |
ONCR |
