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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1990-6-14
|
| pubmed:abstractText |
In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0169-328X
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
7
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
273-6
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:2159587-Amino Acid Sequence,
pubmed-meshheading:2159587-Base Sequence,
pubmed-meshheading:2159587-Creutzfeldt-Jakob Syndrome,
pubmed-meshheading:2159587-DNA Transposable Elements,
pubmed-meshheading:2159587-Humans,
pubmed-meshheading:2159587-Molecular Sequence Data,
pubmed-meshheading:2159587-Prions
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.
|
| pubmed:affiliation |
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, U.K.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|