title: PGM1 null allele detected in a Caucasian mother-son pair.
abstract: The presence of a PGM1 null allele in a mother and her son was deduced from their inconsistent phenotypes. Quantitation studies were done to confirm the half-normal enzyme activity. Phenotype analysis of 29 additional genetic markers gave no indication of non-parentage, making non-maternity a very unlikely explanation for the discrepancy.
authors.forename: L J
authors.initials: LJ
authors.lastname: Ward
authors.forename: R C
authors.initials: RC
authors.lastname: Elston
authors.forename: B J
authors.initials: BJ
authors.lastname: Keats
authors.forename: J B
authors.initials: JB
authors.lastname: Graham
mesh_terms: D000483:Alleles; D004592:Electrophoresis, Starch Gel; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D010733:Phosphoglucomutase / Q000235:genetics*
chemical_list: D010733:Phosphoglucomutase