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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2014
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Original Articles
Acesso em linha: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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