The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Cross, Sally H

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype. [electronic resource] - Human molecular genetics Jan 2011 - 223-34 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddq457 doi


Abnormalities, Multiple--genetics
Animals
Coloboma--genetics
DNA-Binding Proteins--metabolism
Gene Expression Regulation, Developmental--genetics
Genotype
Humans
Mice
Mice, Inbred BALB C
Mice, Inbred C3H
Mice, Inbred C57BL
Models, Animal
Mutation, Missense
PAX2 Transcription Factor--genetics
Phenotype
Point Mutation
Renal Insufficiency--genetics
Transcriptional Activation--genetics
Vesico-Ureteral Reflux--genetics