𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Sex–dependent rearrangements resulting in CMT1A and HNPP

✍ Scribed by Lopes, Judith; Vandenberghe, Antoon; Tardieu, Sandrine; lonasescu, Victor; Lévy, Nicolas; Wood, Nicholas; Tachi, Nobutada; Bouche, Pierre; Latour, Philippe; Brice, Alexis


Book ID
109918321
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
229 KB
Volume
17
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Diagnosis of CMT1A duplications and HNPP
✍ Shaffer, Lisa G.; Kennedy, Gilbert M.; Spikes, Aimee S.; Lupski, James R. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 2 views

## Charcot -Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb regio

Chromosome rearrangements resulting from
✍ John P. Murnane; Laure Sabatier 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 200 KB

## Abstract Telomeres play a vital role in protecting the ends of chromosomes and preventing chromosome fusion. The failure of cancer cells to properly maintain telomeres can be an important source of the chromosome instability involved in cancer cell progression. Telomere loss results in sister ch