Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy
β Scribed by Ayush Dagvadorj; Robert B. Petersen; Hee Suk Lee; Larisa Cervenakova; Alexey Shatunov; Herbert Budka; Paul Brown; Pierluigi Gambetti; Lev G. Goldfarb
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 109 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0364-5134
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Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts ca
Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Mutations in the NIPBL gene have been identified in approximately 40% of reporte