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Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

Autor: A, Shatunov, E A, Fridman, F I, Pagan, J, Leib, A, Singleton, M, Hallett, L G, Goldfarb

Publikováno v: Clinical genetics. 66(6)

A 20-year-old North American patient developed rapidly progressive cognitive decline and pronounced ataxia, a phenotype compatible with prion disease. No structural changes were found in the PRNP gene, which excludes genetic prion disease, but the pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fab24decdee955d56b1b912c503c5264
https://pubmed.ncbi.nlm.nih.gov/15521976

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