50P Monoallelic DAG1 truncating variants in patients with hyperCKemia.

Autor: Segarra-Casas, A.1,2 (AUTHOR), Trainor, C.1 (AUTHOR), Polavarapu, K.3 (AUTHOR), Díaz-Manera, J.1 (AUTHOR), Gonzalez-Quereda, L.2,4 (AUTHOR), Kirschner, J.5 (AUTHOR), de Munain, A. López6,7,8,9 (AUTHOR), Nascimento, A.4,10,11 (AUTHOR), Roos, A.3,12,13 (AUTHOR), Dowling, J.14,15 (AUTHOR), Muntoni, F.16,17 (AUTHOR), Töpf, A.1 (AUTHOR), Straub, V.1 (AUTHOR)
Zdroj: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.
Databáze: Academic Search Ultimate
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