New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a...

por Abad-Morales, Víctor, Wert, Ana, Ruiz Gómez, María Ángeles, Navarro, Rafael, Pomares, Esther
Publicado 2021