| http://purl.uniprot.org/citations/8447317 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8447317 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8447317 | http://www.w3.org/2000/01/rdf-schema#comment | "The glycolytic enzyme phosphoglycerate mutase (PGAM) is a dimer, and mature human skeletal muscle contains almost exclusively the MM form of the enzyme, PGAM-M. In 1981, we identified a patient with PGAM-M deficiency, and three additional patients have since been described. All presented with exercise intolerance, cramps, and myoglobinuria. We report two new patients with PGAM-M deficiency and describe the molecular lesions in five patients--four African-Americans and one Caucasian. Three patients were homozygous for an identical G-to-A transition converting an encoded Trp to an in-frame stop codon (codon 78). A fourth patient was heterozygous for this mutation and also carried an A-to-C mutation converting Glu to Ala (codon 89). The fifth patient, the only Caucasian, was homozygous for a different point mutation, a C-to-T mutation, converting Arg to Trp (codon 90)."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Dimauro S."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Dimauro S."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Tsujino S."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Tsujino S."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Shanske S."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Shanske S."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Sakoda S."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Sakoda S."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Fenichel G."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/author | "Fenichel G."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/pages | "472-477"xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/pages | "472-477"xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/title | "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/title | "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency."xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/volume | "52"xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://purl.uniprot.org/core/volume | "52"xsd:string |
| http://purl.uniprot.org/citations/8447317 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8447317 |
| http://purl.uniprot.org/citations/8447317 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8447317 |