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Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families.
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- المؤلفون: González‐Mera, L.1,2 (AUTHOR); Ravenscroft, G.3 (AUTHOR); Cabrera‐Serrano, M.3,4,5,6 (AUTHOR); Ermolova, N.7 (AUTHOR); Domínguez‐González, C.8 (AUTHOR); Arteche‐López, A.9 (AUTHOR); Soltanzadeh, P.10 (AUTHOR); Evesson, F.11,12 (AUTHOR); Navas, C.1 (AUTHOR); Mavillard, F.5,6 (AUTHOR); Clayton, J.3 (AUTHOR); Rodrigo, P.1,2 (AUTHOR); Servián‐Morilla, E.4,5,6 (AUTHOR); Cooper, S. T11,12,13 (AUTHOR); Waddell, L.11,13 (AUTHOR); Reardon, K.14 (AUTHOR); Corbett, A.15 (AUTHOR); Hernandez‐Laín, A.16 (AUTHOR); Sanchez, A.17 (AUTHOR); Esteban Perez, J.8 (AUTHOR)
- المصدر:
Neuropathology & Applied Neurobiology. Feb2021, Vol. 47 Issue 2, p283-296. 14p.
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