| http://purl.uniprot.org/citations/7704029 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7704029 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7704029 | http://www.w3.org/2000/01/rdf-schema#comment | "Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of alpha-actinin and actin. We have identified a missense mutation in the alpha-tropomyosin gene, TPM3, which segregates completely with the disease in a family whose autosomal dominant nemaline myopathy we had previously localized to chromosome 1p13-q25. The mutation substitutes an arginine residue for a highly conserved methionine in a putative actin-binding site near the N terminus of the alpha-tropomyosin. The mutation may strengthen tropomyosin - actin binding, leading to rod body formation, by adding a further basic residue to the postulated actin-binding motif."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0195-75"xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0195-75"xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "White S."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "White S."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Watkins H."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Watkins H."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Laing N.G."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Laing N.G."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Love D.R."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Love D.R."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Haan E."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Haan E."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Boundy K."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Boundy K."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Akkari P.A."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Akkari P.A."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Blumbergs P."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Blumbergs P."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Wilton S.D."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Wilton S.D."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Dorosz S."xsd:string |
| http://purl.uniprot.org/citations/7704029 | http://purl.uniprot.org/core/author | "Dorosz S."xsd:string |