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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1987-4-6
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pubmed:abstractText |
We report here a unique variant of alpha spectrin in a kindred with hereditary elliptocytosis. This novel red blood cell-membrane protein migrated to a position between the normal alpha- and beta-spectrin subunits in SDS polyacrylamide gel electrophoresis. It was identified as an alpha spectrin by its binding to anti-alpha spectrin antibodies, by the absence of a phosphorylation site, and by the normal 1:1 stoichiometry between total alpha- and beta-spectrin molecules. The quantity of the alpha-spectrin mutant, expressed as a percentage of the total alpha spectrin, varied from 9.9-45.2% among six affected individuals. Two-dimensional electrophoretic analysis of spectrin tryptic digests was qualitatively normal but showed a decreased quantity of a normal alpha IV fragment. The variable quantity of alpha-spectrin mutant among family members correlated directly with the increased percentage of spectrin dimers in cold low ionic strength spectrin extracts (r = 0.92) and inversely with red blood cell ghost mechanical stability (r = -0.98). The data suggest that this new alpha-spectrin mutant is responsible for decreased spectrin dimer-dimer association and for red cell instability in affected individuals.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/3818958-14028302,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3818958-20929,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/3818958-4027386,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/3818958-4326772,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/3818958-956688
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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 |
Mar
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pubmed:issn |
0021-9738
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
79
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
989-96
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:3818958-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:3818958-Elliptocytosis, Hereditary,
pubmed-meshheading:3818958-Erythrocyte Membrane,
pubmed-meshheading:3818958-Hot Temperature,
pubmed-meshheading:3818958-Humans,
pubmed-meshheading:3818958-Immunologic Tests,
pubmed-meshheading:3818958-Infant,
pubmed-meshheading:3818958-Macromolecular Substances,
pubmed-meshheading:3818958-Male,
pubmed-meshheading:3818958-Mutation,
pubmed-meshheading:3818958-Osmolar Concentration,
pubmed-meshheading:3818958-Pedigree,
pubmed-meshheading:3818958-Phosphorylation,
pubmed-meshheading:3818958-Spectrin,
pubmed-meshheading:3818958-Stress, Mechanical,
pubmed-meshheading:3818958-Trypsin
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pubmed:year |
1987
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pubmed:articleTitle |
Unique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
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