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Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot–Marie–Tooth type 1 patients

✍ Scribed by G Koutsis; A Pandraud; G Karadima; M Panas; MM Reilly; P Floroskufi; NW Wood; H Houlden


Book ID
119839659
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
483 KB
Volume
83
Category
Article
ISSN
0009-9163

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Mutational analysis of PMP22, MPZ, GJB1,
✍ Byung-Ok Choi; Mi Sun Lee; Sang Hee Shin; Jung Hee Hwang; Kyoung-Gyu Choi; Won-K 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB

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