DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und
Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1b
β Scribed by Ikegami, Tohru; Ikeda, Hiroyuki; Mitsui, Tetsuo; Hayasaka, Kiyoshi; Ishii, Shougo
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 15 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970808)71:2<246::aid-ajmg28>3.0.co;2-d
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