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Desmin splice variants causing cardiac and skeletal myopathy

Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desmin resulting in deletion of the entire exon 3 during the pre-mRNA sp...

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Bibliografiset tiedot
Päätekijät: Park, K., Dalakas, M., Goebel, H., Ferrans, V., Semino-Mora, C., Litvak, S., Takeda, K., Goldfarb, L.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2000
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734475/
https://ncbi.nlm.nih.gov/pubmed/11073539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.11.851
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