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http://purl.uniprot.org/citations/9655116http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9655116http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9655116http://www.w3.org/2000/01/rdf-schema#comment"Golden retriever muscular dystrophy (GRMD), the canine model of Duchenne muscular dystrophy (DMD), is caused by a splice site mutation in the dystrophin gene. This mutation predicts a premature termination codon in exon 8 and a peptide that is 5% the size of normal dystrophin. Western blot analysis of skeletal muscle from GRMD dogs reveals a slightly truncated 390-kD protein that is approximately 91% the size of normal dystrophin. This 390-kD dystrophin suggests that GRMD dogs, like some DMD patients, employ a mechanism to overcome their predicted frameshift. Reverse-transcriptase polymerase chain reaction on GRMD muscle has revealed two in-frame dystrophin transcripts which lack either exons 3-9 or exons 5-12. Both transcripts could be translated into a dystrophin protein of approximately 390 kD. An understanding of how truncated dystrophin is produced in GRMD may allow this mechanism to be manipulated toward a potential therapy for DMD."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.org/dc/terms/identifier"doi:10.1002/(sici)1097-4598(199808)21:8<991::aid-mus2>3.0.co;2-0"xsd:string
http://purl.uniprot.org/citations/9655116http://purl.org/dc/terms/identifier"doi:10.1002/(sici)1097-4598(199808)21:8<991::aid-mus2>3.0.co;2-0"xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Mann C.J."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Mann C.J."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Anderson L.V."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Anderson L.V."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Kornegay J.N."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Kornegay J.N."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Schatzberg S.J."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Schatzberg S.J."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Sharp N.J."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Sharp N.J."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Solomon G.G."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Solomon G.G."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Wilton S.D."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/author"Wilton S.D."xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/date"1998"xsd:gYear
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/date"1998"xsd:gYear
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/name"Muscle Nerve"xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/name"Muscle Nerve"xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/pages"991-998"xsd:string
http://purl.uniprot.org/citations/9655116http://purl.uniprot.org/core/pages"991-998"xsd:string