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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Detalles Bibliográficos
Autores principales: Katrak, Sarosh M., Pauranik, Apoorva, Desai, Shrinivas B., Mead, Simon, Beck, Jon, Brandner, Sebastian, Collinge, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839320/
https://www.ncbi.nlm.nih.gov/pubmed/31736569
http://dx.doi.org/10.4103/aian.AIAN_214_19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839320/
https://www.ncbi.nlm.nih.gov/pubmed/31736569
http://dx.doi.org/10.4103/aian.AIAN_214_19

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