The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype. [electronic resource]
Producer: 20111207Description: 223-34 p. digitalISSN:- 1460-2083
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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