- Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases
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Byeon JH, Shin E, Kim GH, Lee K, Hong YS, Lee JW, Eun BL
- KMID: 1779883
- Yonsei Med J.
- 2014 Jan;55(1):30-36.
- doi: 10.3349/ymj.2014.55.1.30
PURPOSE: Array comparative genomic hybridization (array-CGH) is a technique used to analyze quantitative increase or decrease of chromosomes by competitive DNA hybridization of patients and controls. This study aimed to... -
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- Rapid Detection of Duplication/Deletion of the PMP22 Gene in Patients with Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsy by Real-time Quantitative PCR using SYBR Green I Dye
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Kim SW, Lee KS, Jin HS, Lee TM, Koo SK, Lee YJ, Jung SC
- KMID: 1130046
- J Korean Med Sci.
- 2003 Oct;18(5):727-732.
- doi: 10.3346/jkms.2003.18.5.727
Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, accounting for approximately 70% of all cases. Patients... -
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