Identification of 34 novel mutations in propionic acidemia:...

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Molecular Genetics and Metabolism 2018 / 9

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations

Rivera-Barahona, Ana, Navarrete, Rosa, García-Rodríguez, Raquel, Richard, Eva, Ugarte, Magdalena, Pérez-Cerda, Celia, Pérez, Belén, Gámez, Alejandra, Desviat, Lourdes R.
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Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2018.09.008
Date:
September, 2018
File:
PDF, 10.51 MB
english, 2018
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