Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). [electronic resource]
Producer: 19981023Description: 149-53 p. digitalISSN:- 0340-6717
- Abnormalities, Multiple -- genetics
- Adolescent
- Child
- Child, Preschool
- Coloboma -- genetics
- DNA Mutational Analysis
- DNA-Binding Proteins -- genetics
- Female
- Gene Duplication
- Humans
- Kidney -- abnormalities
- Male
- Mutation, Missense
- Optic Disk -- abnormalities
- PAX2 Transcription Factor
- Pedigree
- Renal Insufficiency -- genetics
- Retinal Vessels -- abnormalities
- Syndrome
- Transcription Factors -- genetics
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Publication Type: Journal Article
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