𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?

✍ Scribed by D'Angelo, Rosalia; Scimone, Concetta; Calabrò, Marco; Schettino, Carla; Fratta, Mario; Sidoti, Antonina

Book ID
122643882
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
789 KB
Volume
519
Category
Article
ISSN
0378-1119

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel CCM1, CCM2, and CCM3 mutations in
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex
✍ Sonja Stahl; Sabine Gaetzner; Katrin Voss; Bettina Brackertz; Elisa Schleider; O 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 421 KB

Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mu

Identification of a novel NOG gene mutat
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism
✍ M. Mangino; E. Flex; M.C. Digilio; A. Giannotti; B. Dallapiccola 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB

## Symphalangism (SYM or SYM1 ) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which