Summary
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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References
Brinkmann B, Koops E, Klopp O, Heindl K (1972) Inherited partial deficiency of the PGM 11 gene: biochemical and densitometric studies. Ann Hum Genet 35:363–366
Dykes DD, Kühnl P, Martin W (1985) PGM1 system. Report on the International Workshop, Munich 1983. Am J Hum Genet (in press)
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Bertrams, J., Hintzen, U. & Barberan, F. A new partially deficient variant in the phosphoglucomutase 1 system, PGM1*W31. Hum Genet 72, 177–178 (1986). https://doi.org/10.1007/BF00283942
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DOI: https://doi.org/10.1007/BF00283942