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A new partially deficient variant in the phosphoglucomutase 1 system, PGM1*W31.

作者信息

Bertrams J, Hintzen U, Barberan F

出版信息

Hum Genet. 1986 Feb;72(2):177-8. doi: 10.1007/BF00283942.

Abstract

In a case of disputed paternity an inherited hyposynthetical variant of the PGM11A 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 PGM11A protein. The variant was designated PGM1*W31.

摘要

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