TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations
✍ Scribed by R. Del Bo; S. Ghezzi; S. Corti; M. Pandolfo; M. Ranieri; D. Santoro; I. Ghione; A. Prelle; V. Orsetti; M. Mancuso; G. Sorarù; C. Briani; C. Angelini; G. Siciliano; N. Bresolin; G. P. Comi
- Book ID
- 111065908
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 299 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1351-5101
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Homocystinuria due to cystathionine β-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent al
Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within thi