Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion–8 bp insertion of the APRT gene suffering from severe renal failure
Title:
Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion–8 bp insertion of the APRT gene suffering from severe renal failure
Author:
Di Pietro, Valentina Perruzza, Italia Amorini, Angela Maria Balducci, Alessandro Ceccarelli, Lia Lazzarino, Giuseppe Barsotti, Paola Giardina, Bruno Tavazzi, Barbara