A new partially deficient variant in the phosphoglucomutase 1 system, PGM1*W31
β Scribed by J. Bertrams; Ute Hintzen; Fe Barberan
- Book ID
- 104704203
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 302 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
In a case of disputed paternity an inherited hyposynthetical variant of the PGM1*1A gene was identified. This variant could not be detected by conventional electrophoresis on cellulose acetate membranes but clearly appeared on polyacrylamide gels after isoelectric focusing. The enzyme activity of this variant was about 25% of the normal PGM1*1A protein. The variant was designated PGM1*W31.
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The detection of PI Scologne, a rare variant in the alpha-1-antitrypsin system, by means of isoelectric focusing is described.
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Objective. To describe a new kindred with Clq deficiency and to identify the molecular lesions responsible for complete functional Clq deficiency in this and 2 other previously described kindreds. Methods. The A-, B-, and C-chain genes of Clq were amplified by polymerase chain reaction, cloned, and