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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
1979-8-29
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pubmed:abstractText |
An unusual variant of serum alpha1-antitrypsin is described in a 15 5/6-year-old white male with a history of chronic pulmonary disease. The patient had a very low level of this protease inhibitor as demonstrated by tryptic inhibitory capacity and electroimmunoassay. Even though the patient's serum alpha1-antitrypsin was partially purified and concentrated, no phenotypic pattern was seen using conventional Pityping procedures (acid starch gel with crossed antigen-antibody electrophoresis or isoelectric focusing). Crossed antigen-antibody electrophoresis using agarose in both steps, immunoelectrophoresis, and agarose electrophoresis followed by immunofixation all revealed a slow-moving alpha1-antitrypsin, cathodal to the Pi Z region. Studies on sera from the patient's mother and two half-sibs showed that all three had clear Pi M phenotypic pattersn. Quantitative date on these sera suggested that the unusual variant may be inherited in a codominant fashion.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0021-7263
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
144
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
161-5
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pubmed:dateRevised |
2009-11-11
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pubmed:meshHeading |
pubmed-meshheading:312969-Adolescent,
pubmed-meshheading:312969-Electrophoresis, Agar Gel,
pubmed-meshheading:312969-Electrophoresis, Starch Gel,
pubmed-meshheading:312969-Humans,
pubmed-meshheading:312969-Immunoelectrophoresis, Two-Dimensional,
pubmed-meshheading:312969-Isoelectric Focusing,
pubmed-meshheading:312969-Lung Diseases,
pubmed-meshheading:312969-Male,
pubmed-meshheading:312969-Pedigree,
pubmed-meshheading:312969-Phenotype,
pubmed-meshheading:312969-alpha 1-Antitrypsin,
pubmed-meshheading:312969-alpha 1-Antitrypsin Deficiency
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pubmed:year |
1979
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pubmed:articleTitle |
An unusual type of alpha1-antitrypsin deficiency in a child.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
|