Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. [electronic resource]
Producer: 20100812Description: 735-41 p. digitalISSN:- 1432-1459
- Charcot-Marie-Tooth Disease -- etiology
- Chromosomes, Human, Pair 17
- DNA Copy Number Variations
- Exons
- Female
- Gene Duplication
- Guanine Nucleotide Exchange Factors -- genetics
- Humans
- Male
- Microarray Analysis -- methods
- Myelin Proteins -- genetics
- Nucleic Acid Hybridization -- methods
- Peripheral Nervous System Diseases -- genetics
- Phenotype
- Polymerase Chain Reaction
- Protein Tyrosine Phosphatases, Non-Receptor -- genetics
- Reproducibility of Results
- Rho Guanine Nucleotide Exchange Factors
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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