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| http://purl.uniprot.org/citations/11994971 | http://www.w3.org/2000/01/rdf-schema#comment | "The most common autosomal recessive form of nemaline myopathy is due to mutations in the nebulin gene. Among eight patients studied, we identified one, a 14-year-old girl, with a specific pattern of diffuse rods in muscle fibers. Western blot analysis detected absence of the C-terminal domain of nebulin. Protein analysis may represent a good screening method to direct molecular studies in the case of very large and complex genes such as the large 1298 kb nebulin gene."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.org/dc/terms/identifier | "doi:10.1002/mus.10097"xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/author | "Zatz M."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/author | "Bang M.L."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/author | "Labeit S."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/author | "Vainzof M."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/author | "Gurgel-Giannetti J."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/author | "Marie S."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/author | "Reed U."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/name | "Muscle Nerve"xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/pages | "747-752"xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/title | "Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy."xsd:string |
| http://purl.uniprot.org/citations/11994971 | http://purl.uniprot.org/core/volume | "25"xsd:string |
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