martes, 18 de febrero de 2020

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb | Acta Neuropathologica Communications | Full Text

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb | Acta Neuropathologica Communications | Full Text

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Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients have autosomal re...
Authors:Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala…
Citation:Acta Neuropathologica Communications 2020 8:18
Content type:Research
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