We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease. The CMT1A duplication was present in 53.6% of 28 CMT type 1 patients. In the 42 CMT families without
β¦ LIBER β¦
Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1
β Scribed by H-K Park; BJ Kim; DH Sung; C-S Ki; J-W Kim
- Book ID
- 110888244
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 244 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0009-9163
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