| http://purl.uniprot.org/citations/1421379 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1421379 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1421379 | http://www.w3.org/2000/01/rdf-schema#comment | "Erythrocyte bisphosphoglycerate mutase (BPGM) deficiency is a rare disease associated with a decrease in 2,3-diphosphoglycerate concentration. A complete BPGM deficiency was described in 1978 by Rosa et al (J Clin Invest 62:907, 1978) and was shown to be associated with 30% to 50% of an inactive enzyme detectable by specific antibodies and resulting from an 89 Arg-->Cys substitution. The propositus' three sisters exhibited the same phenotype, while his two children had an intermediate phenotype. Samples from the family were examined using polymerase chain reaction and allele-specific oligonucleotide hybridization and sequencing techniques. Amplification of erythrocyte total RNA from the propositus' sister around the 89 mutation indicated the presence of two forms of messenger RNAs, a major form with the 89 Arg-->Cys mutation and a minor form with a normal sequence. Sequence studies of the propositus' DNA samples indicated heterozygosity at locus 89 and another heterozygosity with the deletion of nucleotide C 205 or C 206. Therefore, the total BPGM deficiency results from a genetic compound with one allele coding for an inactive enzyme (mutation BPGM Créteil I) and the other bearing a frameshift mutation (mutation BPGM Créteil II). Examination of the propositus' two children indicated that they both inherited the BPGM Créteil I mutation."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Valentin C."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Valentin C."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Joulin V."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Joulin V."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Cohen-Solal M."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Cohen-Solal M."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Rosa J."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Rosa J."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Lemarchandel V."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Lemarchandel V."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Galacteros F."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Galacteros F."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Rosa R."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/author | "Rosa R."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/pages | "2643-2649"xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/pages | "2643-2649"xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/title | "Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency."xsd:string |
| http://purl.uniprot.org/citations/1421379 | http://purl.uniprot.org/core/title | "Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency."xsd:string |