The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. [electronic resource]
Producer: 19990105Description: 806-12 p. digitalISSN:- 0022-2593
- Abnormalities, Multiple -- genetics
- Adolescent
- Adult
- Child
- Child, Preschool
- Coloboma -- genetics
- DNA -- blood
- DNA Mutational Analysis
- DNA-Binding Proteins -- genetics
- Exons -- genetics
- Female
- Heterozygote
- Humans
- Karyotyping
- Male
- Middle Aged
- PAX2 Transcription Factor
- Phenotype
- Polymerase Chain Reaction -- methods
- Polymorphism, Single-Stranded Conformational
- Syndrome
- Transcription Factors -- genetics
- Urogenital Abnormalities -- genetics
- Vesico-Ureteral Reflux -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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