| http://purl.uniprot.org/citations/11509017 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11509017 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11509017 | http://www.w3.org/2000/01/rdf-schema#comment | "Reduced activity of serum lactate dehydrogenase (LDH; EC 1.1.1.27) was found in a male medical student during practical examinations of his own blood. Serum LDH isoenzyme pattern showed reductions in activities of the isoenzymes with lower subunit A/B ratios such as LDH1 and LDH2. These findings were indicative of a partial LDH-B subunit deficiency, which was confirmed in erythrocyte hemolysates by Western blotting. Polymerase chain reaction (PCR)-based DNA sequence analysis of the LDH-B subunit gene revealed a heterozygous nucleotide change: a guanine to adenine substitution in codon 69 (GGG --> GAG) at the third exon of the LDH-B subunit gene that resulted in a glycine to glutamic acid substitution (G69E). The mutation was confirmed by PCR-restriction fragment length polymorphism (RFLP) analysis using a mismatched primer to introduce a new NcoI restriction site. The same heterozygous mutation was found in his mother but not in other family members. This mutation involves a residue belonging to alphaC helix in LDH-B subunit protein molecule that functions as an interface for other subunits."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.org/dc/terms/identifier | "doi:10.1006/mgme.2001.3203"xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.org/dc/terms/identifier | "doi:10.1006/mgme.2001.3203"xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Murakawa K."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Murakawa K."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Okuno Y."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Okuno Y."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Okamoto Y."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Okamoto Y."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Takaoka N."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Takaoka N."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Takatani T."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Takatani T."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Tatsumi M."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Tatsumi M."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Morita K."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Morita K."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Kawamoto H."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Kawamoto H."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Masutani T."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/author | "Masutani T."xsd:string |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11509017 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |