rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
10
|
pubmed:dateCreated |
2003-5-28
|
pubmed:abstractText |
Mutations in the prion protein gene (PRNP) are found in approximately 13 to 15% of persons classified as dying from a transmissible spongiform encephalopathy. Point and octapeptide repeat insert and deletion mutations are described in the open reading frame (ORF) of PRNP. The authors present a clinicopathologic study of a patient with a family history of a lengthy and progressive neurodegenerative disorder associated with a novel large octapeptide repeat insert mutation.
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
AIM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
May
|
pubmed:issn |
1526-632X
|
pubmed:author |
|
pubmed:issnType |
Electronic
|
pubmed:day |
27
|
pubmed:volume |
60
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1620-4
|
pubmed:dateRevised |
2006-11-28
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pubmed:meshHeading |
pubmed-meshheading:12771252-Adult,
pubmed-meshheading:12771252-Age of Onset,
pubmed-meshheading:12771252-Amyloid,
pubmed-meshheading:12771252-Blotting, Western,
pubmed-meshheading:12771252-DNA Mutational Analysis,
pubmed-meshheading:12771252-Diagnosis, Differential,
pubmed-meshheading:12771252-Disease Progression,
pubmed-meshheading:12771252-Female,
pubmed-meshheading:12771252-Humans,
pubmed-meshheading:12771252-Male,
pubmed-meshheading:12771252-Mutagenesis, Insertional,
pubmed-meshheading:12771252-Phenotype,
pubmed-meshheading:12771252-Polymerase Chain Reaction,
pubmed-meshheading:12771252-Prion Diseases,
pubmed-meshheading:12771252-Prions,
pubmed-meshheading:12771252-Protein Precursors
|
pubmed:year |
2003
|
pubmed:articleTitle |
Novel prion protein insert mutation associated with prolonged neurodegenerative illness.
|
pubmed:affiliation |
Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia.
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|