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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
1992-11-17
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pubmed:abstractText |
Several mutations in the prion protein (PrP) gene are associated with familial Creutzfeldt-Jakob disease (FCJD). We describe a family in which five members in three generations have had FCJD. The proband and some descendants of the affected members carried an abnormal PrP gene allele. This allele contained a 24-bp deletion from the tandem repeat region of the open reading frame and a codon 178 missense substitution. Observations suggest that the codon 178 mutation is involved in the pathogenesis of FCJD in the family described here. The 24-bp deletion may be an uncommon polymorphism.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0028-3878
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1864-70
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1357594-Adult,
pubmed-meshheading:1357594-Alleles,
pubmed-meshheading:1357594-Base Sequence,
pubmed-meshheading:1357594-Brain,
pubmed-meshheading:1357594-Codon,
pubmed-meshheading:1357594-Creutzfeldt-Jakob Syndrome,
pubmed-meshheading:1357594-Gene Deletion,
pubmed-meshheading:1357594-Gene Rearrangement,
pubmed-meshheading:1357594-Genes,
pubmed-meshheading:1357594-Humans,
pubmed-meshheading:1357594-Male,
pubmed-meshheading:1357594-Middle Aged,
pubmed-meshheading:1357594-Molecular Sequence Data,
pubmed-meshheading:1357594-Nerve Tissue Proteins,
pubmed-meshheading:1357594-Pedigree,
pubmed-meshheading:1357594-Polymerase Chain Reaction,
pubmed-meshheading:1357594-PrPSc Proteins,
pubmed-meshheading:1357594-Prions,
pubmed-meshheading:1357594-Reading Frames
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pubmed:year |
1992
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pubmed:articleTitle |
A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease.
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pubmed:affiliation |
Department of Neurology, Vanderbilt University Medical Center, Nashville, TN.
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pubmed:publicationType |
Journal Article
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