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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Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Mary Ann Liebert, Inc. 2014
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Original Articles
Online-ссылка: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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