Browsing by Author "Mrabet, Samir"
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Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes
Elhayek, Donia; Pérez de Nanclares, Gustavo; Chouchane, Slaheddine; Hamami, Saber; Mlika, Adnene; Troudi, Monia; Leban, Nadia; Ben Romdane, Wafa; Gueddiche, Mohamed Neji; El Amri, Fethi; Mrabet, Samir; Ben Chibani, Jemni; Castaño González, Luis Antonio ; Khelil, Amel Haj; Ariceta, Gema (Biomed Central, 2013-11)Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H+ -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large ...