Article
Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease.
Journal of medical genetics - 1 Dec 2008
Beck J A, Campbell T A, Adamson G, Poulter M, Uphill J B, Molou E, Collinge J, Mead S
Abstract excerpt
BACKGROUND: No susceptibility genes have been identified in human prion disase, apart from the prion protein gene (PRNP). The gene SPRN, encodes Shadoo (Sho, shadow of prion protein) which has protein homology and possible functional links with the prion protein. METHODS: A genetic screen was carried out of the open reading frame of SPRN by direct sequencing in 522 patients with prion disease, including 107 with...
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