Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

Background: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have been described; the latter is also associated with...

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Détails bibliographiques
Auteurs principaux: Nagara, Majdi, Voskarides, Konstantinos, Nouira, Sonia, Ben Halim, Nizar, Kefi, Rym, Aloulou, Hajer, Romdhane, Lilia, Ben Abdallah, Rim, Ben Rhouma, Faten, Aissa, Khaoula, Boughamoura, Lamia, Kammoun, Thouraya, Azzouz, Hatem, Abroug, Saoussen, Ben Turkia, Hathemi, Ayadi, Abdelkarim, Mrad, Ridha, Chabchoub, Imen, Hachicha, Mongia, Chemli, Jalel, Deltas, Constantinos, Abdelhak, Sonia
Format: Artigo
Langue:Inglês
Publié: Mary Ann Liebert, Inc. 2014
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4217022/
https://ncbi.nlm.nih.gov/pubmed/25285676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2014.0175
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