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  1. 1
    Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg

    Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg by Victoria Cerrada, Marta García-López, Sofía Alvarez-Galeano, Ana Moreno-Izquierdo, Alejandro Lucia, María Rabasa Pérez, Joaquín Arenas, M. Esther Gallardo

    Published 2020-12-01
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  2. 2
    Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI)

    Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI) by Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A. Martín

    Published 2022-10-01
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