title: Characterization of a rare allele of the phosphoglucomutase locus 1 (PGM81) in an Italian family by isoelectric focusing.
abstract: A rare phenotype at the phosphoglucomutase locus 1 with an electrophoretic mobility similar to that of PGM1 8-1 was found in an Italian family. The study of this variant was performed by isoelectric focusing on polyacrylamide gel. Also the isoelectric point of the PGM81 gene product was determined.
mesh_terms: D000483:Alleles; D004592:Electrophoresis, Starch Gel; D005260:Female; D006801:Humans; D007525:Isoelectric Focusing; D007558:Italy; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010733:Phosphoglucomutase / Q000235:genetics*
chemical_list: D010733:Phosphoglucomutase