Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. [electronic resource]
Producer: 20080612Description: 67-73 p. digitalISSN:- 1090-6576
- Abnormalities, Multiple -- diagnosis
- Case-Control Studies
- Chromosome Aberrations
- Chromosomes, Human, Pair 17 -- genetics
- Gene Dosage
- Humans
- In Situ Hybridization, Fluorescence
- Molecular Probe Techniques
- Phenotype
- Polymerase Chain Reaction -- methods
- Syndrome
- Trans-Activators
- Transcription Factors -- genetics
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Publication Type: Journal Article; Validation Study
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