Linked Life Data

14640032

Source:http://linkedlifedata.com/resource/pubmed/id/14640032

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2003-11-26
pubmed:abstractText
We report here for the first time the on-line analysis of transthyretin genetic variants by mass spectral analysis. The use of mass spectrometry to analyze immunoprecipitated transthyretin has been previously described. However, the on-line analysis of TTR directly from serum reported here will allow for a fully automated high throughput analysis. Mutations in the plasma transport protein TTR are readily observed and distinguished from normal TTR. Free TTR as well as TTR-cysteine and TTR-cysteinylglycine adducts are clearly evident. The resulting assay from serum to final interpretation requires less than twenty minutes. The assay should be an effective first line discriminator of patients who are being considered to have Familial Amyloidotic Polyneuropathy (FAP) and an adjunct to definitive diagnosis by sequencing of the TTR gene or protein.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1350-6129
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
190-7
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
An on-line assay for clinical detection of amyloidogenic transthyretin variants directly from serum.
pubmed:affiliation
Biomedical Mass Spectrometry and Functional Proteomics Facility, Mayo Clinic, Rochester, MN 55905, USA. bergen.bob@mayo.edu
pubmed:publicationType
Journal Article