Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. [electronic resource]
Producer: 20120403Description: 46-55 p. digitalISSN:- 1943-7811
- CHARGE Syndrome -- diagnosis
- Chromatography, High Pressure Liquid -- methods
- Computer Simulation
- DNA Helicases
- DNA Mutational Analysis -- methods
- DNA-Binding Proteins
- Exons
- Gene Dosage
- Gene Rearrangement
- Genetic Testing -- methods
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Models, Genetic
- Mutation
- Practice Guidelines as Topic
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Publication Type: Journal Article
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