Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. [electronic resource]
Producer: 19950803Description: 358-64 p. digitalISSN:- 1061-4036
- Abnormalities, Multiple -- genetics
- Adolescent
- Adult
- Animals
- Base Sequence
- Child
- Chromosome Mapping
- Coloboma -- genetics
- DNA -- genetics
- DNA-Binding Proteins -- genetics
- Exons
- Female
- Frameshift Mutation
- Genes, Dominant
- Humans
- Kidney -- abnormalities
- Male
- Mice
- Mice, Mutant Strains
- Molecular Sequence Data
- Optic Nerve -- abnormalities
- PAX2 Transcription Factor
- Pedigree
- Transcription Factors -- genetics
- Vesico-Ureteral Reflux -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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