Article
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).
Molecular genetics and metabolism - 1 Nov 2018
Granata Francesca, Mendez Manuel, Brancaleoni Valentina, Castelbon Francisco J, Graziadei Giovanna, Ventura Paolo, Di Pierro Elena
Abstract excerpt
Genetic variants in promoters and alternative-splicing lesions require to be experimentally tested in order to validate them as causatives of a disease. The digital PCR (dPCR) approach, which is an alternative to the classical qPCR, is an innovative and a more sensitive method for the detection and quantification of nucleic acids. In the present study, we identified four HMBS gene mutations affecting the...
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