ISSN:
1432-0533
Keywords:
Key words Prion
;
Creutzfeldt-Jakob disease
;
Codon 178 mutation
;
Human prion protein gene
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Familial Creutzfeldt-Jakob disease was first described in a family from northern Germany in the 1920s (Backer family). PCR amplification of DNA extracted from brain tissue embedded in celloidin 72 years ago shows a GAC to AAC substitution at codon 178 of the prion protein gene. This mutation is associated with fatal familial insomnia and familial Creutzfeldt-Jakob disease in a number of families of diverse ethnic background.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004010050220
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