𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mutation in theNHLRC1gene in a Malian family with a severe phenotype of Lafora disease

✍ Scribed by M. Traoré; G. Landouré; W. Motley; M. Sangaré; K. Meilleur; S. Coulibaly; S. Traoré; B. Niaré; F. Mochel; A. La Pean; A. Vortmeyer; H. Mani; K. H. Fischbeck


Publisher
Springer
Year
2009
Tongue
English
Weight
148 KB
Volume
10
Category
Article
ISSN
1364-6745

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel SOD1 N86K mutation is associated w
✍ Marcus Beck; Michael Sendtner; Klaus V. Toyka 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB

## Abstract Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the __SOD1__ gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the __SOD1__ gene results in an amino a

Norrie disease gene mutation in a large
✍ Heidi L. Rehm; Gustavo A. Gutiérrez-Espeleta; Rafael Garcia; Gerardo Jiménez; Um 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 205 KB 👁 2 views

A large Costa Rican kindred has been identified with 15 males affected with congenital blindness, progressive bearing loss, and venous insufficiency. Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural heari