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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)

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Description scientific article published on 05 September 2018
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author: Giovanna Graziadei  Valentina Brancaleoni  Elena Di Pierro 

Publication date September 5, 2018
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