TY  - GEN
AU  - Cross,Sally H
AU  - McKie,Lisa
AU  - West,Katrine
AU  - Coghill,Emma L
AU  - Favor,Jack
AU  - Bhattacharya,Shoumo
AU  - Brown,Steve D M
AU  - Jackson,Ian J
TI  - The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype
SN  - 1460-2083
PY  - 2011///1207
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Animals
KW  - Coloboma
KW  - DNA-Binding Proteins
KW  - metabolism
KW  - Gene Expression Regulation, Developmental
KW  - Genotype
KW  - Humans
KW  - Mice
KW  - Mice, Inbred BALB C
KW  - Mice, Inbred C3H
KW  - Mice, Inbred C57BL
KW  - Models, Animal
KW  - Mutation, Missense
KW  - PAX2 Transcription Factor
KW  - Phenotype
KW  - Point Mutation
KW  - Renal Insufficiency
KW  - Transcriptional Activation
KW  - Vesico-Ureteral Reflux
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddq457
ER  -