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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Article
Acesso em linha: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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