𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The value of family investigations in newly detected Charcot-Marie-Tooth disease in children

✍ Scribed by J. Lütschg; H. J. Müller; N. J. Malik

Publisher
Springer
Year
1995
Tongue
English
Weight
338 KB
Volume
154
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Four novel mutations of the connexin 32
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1
✍ Ikegami, Tohru; Lin, Changqing; Kato, Mitsuhiro; Itoh, Aiko; Nonaka, Ikuya; Kuri 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

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