Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP)
Granata, Francesca, Mendez, Manuel, Brancaleoni, Valentina, Castelbon, Francisco J., Graziadei, Giovanna, Ventura, Paolo, Di Pierro, ElenaLangue:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2018.09.002
Date:
September, 2018
Fichier:
PDF, 1.16 MB
english, 2018
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