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Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.
Alzualde, A; Moreno, F; Martínez-Lage, P; Ferrer, I; Gorostidi, A; Otaegui, D; Blázquez, L; Atares, B; Cardoso, S; Martínez de Pancorbo, M; Juste, R; Rodríguez-Martínez, A B; Indakoetxea, B; López de Munain, A.
Affiliation
  • Alzualde A; Unidad Neurociencias, Instituto de Investigación Biodonostia, San Sebastián, Spain. ainhoa.alzualdezuloaga@osakidetza.net
Am J Med Genet B Neuropsychiatr Genet ; 153B(7): 1283-91, 2010 Oct 05.
Article in En | MEDLINE | ID: mdl-20872767
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prions / Creutzfeldt-Jakob Syndrome / Mutation, Missense / Mosaicism Type of study: Prognostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Am J Med Genet B Neuropsychiatr Genet Journal subject: GENETICA MEDICA / NEUROLOGIA / PSIQUIATRIA Year: 2010 Type: Article Affiliation country: Spain
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prions / Creutzfeldt-Jakob Syndrome / Mutation, Missense / Mosaicism Type of study: Prognostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Am J Med Genet B Neuropsychiatr Genet Journal subject: GENETICA MEDICA / NEUROLOGIA / PSIQUIATRIA Year: 2010 Type: Article Affiliation country: Spain