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

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 antibodie...

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Vydáno v:Sci Rep
Hlavní autoři: Lam, Le Thanh, Holt, Ian, Laitila, Jenni, Hanif, Mubashir, Pelin, Katarina, Wallgren-Pettersson, Carina, Sewry, Caroline A., Morris, Glenn E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6200726/
https://ncbi.nlm.nih.gov/pubmed/30356055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-33281-6
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