- Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1
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Choi YR, Jung SC, Shin J, Yoo SY, Lee JS, Joo J, Lee J, Hong YB, Choi BO
- KMID: 2055586
- J Genet Med.
- 2015 Jun;12(1):25-30.
- doi: 10.5734/JGM.2015.12.1.25
PURPOSE: Charcot-Marie-Tooth disease (CMT) is a peripheral neuropathy mainly divided into CMT type 1 (CMT1) and CMT2 according to the phenotype and genotype. Although molecular pathologies for each genetic causative... -
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- Myelin Protein Zero (MPZ) Gene Analysis in Korean Patients with Charcot-Marie-Tooth: Clinical and Electrophysiological Characteristics
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Choi BO, Chung KW, Cho HJ, Park KD, Lee KS, Kim SM, Sunwoo IN
- KMID: 2343145
- J Korean Neurol Assoc.
- 2005 Apr;23(2):227-231.
BACKGROUND: Mutations in the myelin protein zero (MPZ) gene, which is located on chromosome 1q21-q22, is present in Charcot-Marie-Tooth disease type 1B (CMT1B), CMT type 2, Dejerine-Sottas syndrome, and congenital... -
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