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Article

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

18 Oct 2018

Abstract excerpt

Nebulin is a very large protein required for assembly of the contractile machinery in muscle. Mutations in the nebulin gene NEB are a common cause of nemaline myopathy. Nebulin mRNA is alternatively-spliced so that each mRNA contains either exon 143 or exon 144. We have produced monoclonal antibodies specific for the regions of nebulin encoded by these two exons, enabling analysis of expression of isoforms at the...

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PMID: 30356055
DOI: 10.1038/s41598-018-33281-6

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