𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

✍ Scribed by C Crimella; C Baschirotto; A Arnoldi; A Tonelli; E Tenderini; G Airoldi; A Martinuzzi; A Trabacca; L Losito; M Scarlato; S Benedetti; E Scarpini; G Spinicci; N Bresolin; MT Bassi


Book ID
115091959
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
677 KB
Volume
82
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Two novel mutations (C53S, S26L) in the
✍ Takeo Yoshimura; Akio Ohnishi; Tatsunori Yamamoto; Yoshimitsu Fukushima; Mitsuhi 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 418 KB 👁 1 views

Charcot-Marie-Tooth (CMT) disease consists of genetically heterogeneous neuropathies. Molecular genetic procedures have shown that most patients with CMT type 1 (autosomal dominant, hypertrophic form) have 1.5 Mb CMTlA duplication containing peripheral myelin protein-22 (PMP-22) gene