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

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