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Quantifying prion disease penetrance using large population control cohorts
Authors
Eric Minikel,Sonia Vallabh
Monkol Lek,Karol Estrada,Kaitlin Samocha,J. Sathirapongsasuti,Cory McLean,Joyce Tung,Linda Yu,Pierluigi Gambetti,Janis Blevins,Shulin Zhang,Yvonne Cohen,Wei Chen,Masahito Yamada,Tsuyoshi Hamaguchi,Nobuo Sanjo,Hidehiro Mizusawa,Yosikazu Nakamura,Tetsuyuki Kitamoto,Steven Collins,Alison Boyd,Robert Will,Richard Knight,Claudia Ponto,Inga Zerr,Theo Kraus,Sabina Eigenbrod,Armin Giese,Miguel Calero,Jesús Pedro‐Cuesta,Stéphane Haı̈k,Jean Laplanche,Elodie Bouaziz‐Amar,J.-P. Brandel,Sabina Capellari,Piero Parchi,Anna Poleggi,Anna Ladogana,Anne O’Donnell‐Luria,Konrad Karczewski,Jamie Marshall,Michael Boehnke,Markku Laakso,Karen Mohlke,Anna Kähler,Kimberly Chambert,Steven McCarroll,Patrick Sullivan,Christina Hultman,Shaun Purcell,Pamela Sklar,Sven Lee,Annemieke Rozemüller,Casper Jansen,Albert Hofman,Robert Kraaij,Jeroen Rooij,M. Ikram,André Uitterlinden,Cornelia Duijn,Mark Daly,Daniel MacArthur,Tetsuya Hamaguchi
+62 authors
,Anne O’Donnell-LuriaPublished
Jan 20, 2016
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Abstract
Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.
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