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Familial Creutzfeldt-Jakob Disease in an Indian Kindred

It is now known that the inherited prion disease is caused by over 60 different mutations in the Prion protein (PRNP) gene. Four missense mutations at codons 102, 178, 200 and 210, account for over 95% of these cases. In this study we describe, a large Indian family with familial Creutzfeldt Jakob D...

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Detalhes bibliográficos
Publicado no:Ann Indian Acad Neurol
Main Authors: Katrak, Sarosh M., Pauranik, Apoorva, Desai, Shrinivas B., Mead, Simon, Beck, Jon, Brandner, Sebastian, Collinge, John
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer - Medknow 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6839320/
https://ncbi.nlm.nih.gov/pubmed/31736569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_214_19
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