| http://purl.uniprot.org/citations/16945537 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16945537 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16945537 | http://www.w3.org/2000/01/rdf-schema#comment | "We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a "de novo" missense heterozygous mutation a>g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13+/-3% less than normal and the affinity of actin for the Z-line protein alpha-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2006.07.005"xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2006.07.005"xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Bertini E."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Bertini E."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Santorelli F.M."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Santorelli F.M."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Boldrini R."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Boldrini R."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "D'Amico A."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "D'Amico A."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Feng J.-J."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Feng J.-J."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Graziano C."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Graziano C."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Jacques A."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Jacques A."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Laing N."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Laing N."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Limongelli G."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Limongelli G."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Marston S.B."xsd:string |
| http://purl.uniprot.org/citations/16945537 | http://purl.uniprot.org/core/author | "Marston S.B."xsd:string |