| http://purl.uniprot.org/citations/14615364 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14615364 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14615364 | http://www.w3.org/2000/01/rdf-schema#comment | "Aldolase (E.C. 4.1.2.13), a homotetrameric protein encoded by the ALDOA gene, converts fructose-1,6-bisphosphate to dihydroxyacetone phosphate and glyceraldehyde-3-phosphate. Three isozymes are encoded by distinct genes. The sole aldolase present in red blood cells and skeletal muscle is the A isozyme. We report here the case of a girl of Sicilian descent with aldolase A deficiency. Clinical manifestations included transfusion-dependent anemia until splenectomy at age 3 and increasing muscle weakness, with death at age 4 associated with rhabdomyolysis and hyperkalemia. Sequence analysis of the ALDOA coding regions revealed 2 novel heterozygous ALDOA mutations in conserved regions of the protein. The paternal allele encoded a nonsense mutation, Arg303X, in the enzyme-active site. The maternal allele encoded a missense mutation, Cys338Tyr, predicted to cause enzyme instability. This is the most severely affected patient reported to date and only the second with both rhabdomyolysis and hemolysis."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2003-09-3160"xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2003-09-3160"xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Tolan D.R."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Tolan D.R."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Darras B.T."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Darras B.T."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Geva A."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Geva A."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Harris D.J."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Harris D.J."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Murray M.F."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Murray M.F."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Neufeld E.J."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Neufeld E.J."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Yao D.C."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/author | "Yao D.C."xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/pages | "2401-2403"xsd:string |
| http://purl.uniprot.org/citations/14615364 | http://purl.uniprot.org/core/pages | "2401-2403"xsd:string |