Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease

Anticipation is the phenomenon whereby age of onset in genetic disease decreases in successive generations. Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the c.598G>A mutation in PRNP encoding a p.Glu200Lys (E200K) substitution in the prion prote...

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Main Authors: Minikel, Eric Vallabh, Zerr, Inga, Collins, Steven J., Ponto, Claudia, Boyd, Alison, Klug, Genevieve, Karch, André, Kenny, Joanna, Collinge, John, Takada, Leonel T., Forner, Sven, Fong, Jamie C., Mead, Simon, Geschwind, Michael D.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2014
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4185115/
https://ncbi.nlm.nih.gov/pubmed/25279981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.09.003
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