Erythrocyte phosphoglucomutase: a family study of a PGM1 deficient allele.
We have observed a large Mexican American family segregating for a low activity allele at the phosphoglucomutase-1 locus. The deficient allele is detectable by starch gel electrophoresis and by direct activity determination. The presence of the deficient allele in either the homozygous or heterozygous condition is not associated with any other phenotypic finding.
D000483:Alleles; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010733:Phosphoglucomutase / Q000097:blood / Q000172:deficiency / Q000235:genetics*
D010733:Phosphoglucomutase