Article
Prion susceptibility and protective alleles exhibit marked geographic differences.
Human mutation - 1 Jul 2003
Soldevila Marta, Calafell Francesc, Andrés Aida M, Yagüe Jordi, Helgason Agnar, Stefánsson Kári, Bertranpetit Jaume
Abstract excerpt
A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP). We...
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