Electrophoresis of mutant proteins in inherited diseases.
The electrophoretic approaches for detection of mutant proteins in inherited diseases are briefly reviewed and discussed. Mutation of a protein, known to be associated with a specific inherited disease, is detected by immunoblotting, immunoprecipitation or enzyme staining, combined with various electrophoretic techniques. Some instrumental and technological devices for two-dimensional electrophoresis have been reported for the screening of mutant proteins in diseases of currently unknown etiology.
Tokyo Metropolitan Institute of Medical Science, Japan.
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Y
Suzuki
D004586:Electrophoresis / Q000379:methods*; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007158:Immunologic Techniques; D009154:Mutation; D011506:Proteins / Q000032:analysis* / Q000235:genetics
D011506:Proteins