Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity atPRNPCodon 129
Author(s) -
Tzehow Mok,
Zane Jaunmuktane,
Susan Joiner,
Tracy Campbell,
Catherine Morgan,
Benjamin R. Wakerley,
Farhad Golestani,
Peter Rudge,
Simon Mead,
Hans Rolf Jäger,
Jonathan D. F. Wadsworth,
Sebastian Brandner,
John Collinge
Publication year - 2017
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmc1610003
Subject(s) - prnp , loss of heterozygosity , prion protein , disease , biology , gene , genetics , creutzfeldt jakob syndrome , virology , genotype , medicine , pathology , allele
In this case study, variant Creutzfeldt–Jakob disease (CJD) is shown to occur in a young man with heterozygosity, rather than homozygosity, at codon 129 of the prion protein gene (PRNP).
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