Source:http://linkedlifedata.com/resource/pubmed/id/21636698
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
8
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pubmed:dateCreated |
2011-7-29
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pubmed:abstractText |
?-1-Antitrypsin (A1AT) deficiency results from a genetic disorder at 2 common loci. Diagnosis requires quantification of A1AT and subsequent identification of the specific variant. The current algorithm of laboratory testing for the diagnosis of A1AT deficiency uses a combination of quantification (nephelometry), genotyping, and/or phenotyping. We developed a multiple reaction monitoring liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for simultaneous quantification of A1AT and identification of the 2 most common deficiency alleles present in 95% of the patients with A1AT deficiency.
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pubmed:grant | |
pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1530-8561
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
57
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1161-8
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pubmed:meshHeading |
pubmed-meshheading:21636698-Alleles,
pubmed-meshheading:21636698-Chromatography, Liquid,
pubmed-meshheading:21636698-Heterozygote,
pubmed-meshheading:21636698-Homozygote,
pubmed-meshheading:21636698-Humans,
pubmed-meshheading:21636698-Immunoassay,
pubmed-meshheading:21636698-Isoelectric Focusing,
pubmed-meshheading:21636698-Nephelometry and Turbidimetry,
pubmed-meshheading:21636698-Phenotype,
pubmed-meshheading:21636698-Tandem Mass Spectrometry,
pubmed-meshheading:21636698-alpha 1-Antitrypsin,
pubmed-meshheading:21636698-alpha 1-Antitrypsin Deficiency
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pubmed:year |
2011
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pubmed:articleTitle |
Simultaneous phenotyping and quantification of ?-1-antitrypsin by liquid chromatography-tandem mass spectrometry.
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pubmed:affiliation |
Division of Clinical Pharmacology, Department of Molecular and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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