http://purl.uniprot.org/citations/15054810 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15054810 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15054810 | http://www.w3.org/2000/01/rdf-schema#comment | "A 28-year-old asymptomatic male of Iranian Jewish (Meshadi) heritage was found on routine exam to have an erythrocytosis (RBC = 6.22 x 10(12)/l, Hgb = 19.2 g/dl, Hct = 58.9%). Splenomegaly was absent on physical exam. There was no family history of erythrocytosis. His oxygen dissociation curve was left-shifted with a p50 of 19 mmHg (normal = 25-32 mmHg). Hemoglobin electrophoresis showed no abnormalities. DNA sequencing of the hemoglobin beta globin gene and both alpha globin genes did not reveal a mutation. A 2,3-bisphosphoglycerate (BPG) level was markedly decreased at 0.3 micromol/g Hb (normal = 11.4-19.4 micromol/g Hb). The patient's bisphosphoglycerate mutase (BPGM) enzyme activity was also markedly decreased at 0.16 IU/g Hb (normal = 4.13-5.43 IU/g Hb). A red cell enzyme panel revealed a markedly decreased G-6-PD level (0.3 U/g Hb, normal = 8.6-18.6 U/g Hb). His parents and a brother were also available for evaluation. Both parents showed normal 2,3-BPG levels but BPGM activity approximately 50% of normal. Paradoxically, the brother showed normal BPGM activity but a slightly decreased 2,3-BPG level. All family members had markedly decreased G-6-PD activity. DNA sequencing of the BPGM gene showed the propositus to be homozygous for 185 G-->A, Arg 62 Gln in exon 2. Thus, the erythrocytosis in this patient is secondary to low 2,3-BPG levels, due to a deficiency in BPG mutase. This appears due to consanguinity within this family."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajh.20014"xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajh.20014"xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Beutler E."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Beutler E."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "West C."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "West C."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Allen S.L."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Allen S.L."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Fairbanks V.F."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Fairbanks V.F."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Hoyer J.D."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Hoyer J.D."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Kubik K."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/author | "Kubik K."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/name | "Am. J. Hematol."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/name | "Am. J. Hematol."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/pages | "205-208"xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/pages | "205-208"xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/title | "Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency."xsd:string |
http://purl.uniprot.org/citations/15054810 | http://purl.uniprot.org/core/title | "Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency."xsd:string |