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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2006-4-17
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pubmed:abstractText |
Sequences within the non-coding 3'UTR (untranslated region) of genes were reported to be involved in the regulation of gene expression by modifying pathways of (co)transcription, post-transcriptional processing and RNA transport. However, direct biological evidence (i.e., knock-out models) is sparse. This report intends to correlate the first reported alteration within the 3'UTR of the C1 inhibitor (C1-INH) gene with clinical presentation of hereditary angioedema (HAE).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1098-3600
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
249-54
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:16617246-3' Untranslated Regions,
pubmed-meshheading:16617246-Adult,
pubmed-meshheading:16617246-Angioedema,
pubmed-meshheading:16617246-Base Sequence,
pubmed-meshheading:16617246-Complement C1 Inactivator Proteins,
pubmed-meshheading:16617246-DNA Mutational Analysis,
pubmed-meshheading:16617246-Female,
pubmed-meshheading:16617246-Haplotypes,
pubmed-meshheading:16617246-Heterozygote,
pubmed-meshheading:16617246-Humans,
pubmed-meshheading:16617246-Male,
pubmed-meshheading:16617246-Middle Aged,
pubmed-meshheading:16617246-Molecular Sequence Data,
pubmed-meshheading:16617246-Mutation,
pubmed-meshheading:16617246-Pedigree,
pubmed-meshheading:16617246-Polymerase Chain Reaction,
pubmed-meshheading:16617246-Polymorphism, Genetic,
pubmed-meshheading:16617246-Sequence Deletion
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pubmed:year |
2006
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pubmed:articleTitle |
Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.
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pubmed:affiliation |
Division of Molecular Dermatology, Department of Dermatology, Paracelsus Private Medical University Salzburg, Salzburg, Austria.
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pubmed:publicationType |
Journal Article
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