| http://purl.uniprot.org/citations/1417858 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1417858 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1417858 | http://www.w3.org/2000/01/rdf-schema#comment | "We have analyzed the exon 9, 13, 14, 15, and 16 of cardiac beta myosin heavy chain gene in 96 Japanese patients with hypertrophic cardiomyopathy by using PCR-DNA conformation polymorphism analysis. The analysis revealed a sequence variation of the exon 16 in one patient. The sequence variation of a G to C transversion with replacement of Asn by Lys at the codon 615 was confirmed by sequencing and by dot-blot hybridization with an allele-specific oligonucleotide probe. Because the missense mutation was found at the residue conserved through birds to humans, this mutation was suggested to be a cause of hypertrophic cardiomyopathy in the patient. This is the first report of a mutant cardiac beta myosin heavy chain gene in the Japanese population."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.org/dc/terms/identifier | "doi:10.1016/0006-291x(92)92396-f"xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.org/dc/terms/identifier | "doi:10.1016/0006-291x(92)92396-f"xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Kimura A."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Kimura A."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Toshima H."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Toshima H."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Harada H."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Harada H."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Sasazuki T."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Sasazuki T."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Nishi H."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/author | "Nishi H."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/name | "Biochem. Biophys. Res. Commun."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/name | "Biochem. Biophys. Res. Commun."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/pages | "379-387"xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/pages | "379-387"xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/title | "Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/title | "Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy."xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/volume | "188"xsd:string |
| http://purl.uniprot.org/citations/1417858 | http://purl.uniprot.org/core/volume | "188"xsd:string |