✦ LIBER ✦

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

✍ Scribed by 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

Book ID: 126590787
Publisher: Mary Ann Liebert
Year: 2014
Tongue: English
Weight: 450 KB
Volume: 18
Category: Article
ISSN: 1945-0265
DOI: 10.1089/gtmb.2014.0175

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Extensive founder effect for distal rena

Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population

✍ Kaisu Nikali; Juan J. Vanegas; Mari-Wyn Burley; Juliana Martinez; Lina M. Lopez; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 2 views

Molecular diagnosis of distal renal tubu

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for theATP6V1B1,ATP6V0A4andSCL4A1genes

✍ Donia Elhayek,Gustavo Perez de Nanclares,Slaheddine Chouchane… 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 310 KB

ATP6V1B1 mutations in distal renal tubul

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

✍ Subasioglu Uzak, Asli; Cakar, Nilgun; Comak, Elif; Yalcinkaya, Fatos; Tekin, Mus 📂 Article 📅 2013 🏛 Informa plc 🌐 English ⚖ 437 KB

Molecular investigation and long-term cl

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

✍ M Feldman; M Prikis; Y Athanasiou; A Elia; A Pierides; CC Deltas 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 427 KB

Identification of Two Novel Mutations in

Identification of Two Novel Mutations in the SLC4A1 Gene in Two Unrelated Chinese Families with Distal Renal Tubular Acidosis

✍ Zhang, Zeng; Liu, Kang-Xiang; He, Jin-Wei; Fu, Wen-Zhen; Yue, Hua; Zhang, Hao; Z 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 486 KB

Evidences for a dynamic aldosteron-indep

Evidences for a dynamic aldosteron-independent distal tubular control of renal sodium excretion in compensated liver cirrhosis

✍ G. Sansot; S. Silvano; A. Touscoz; A. Smedile; M. Baronio; L. Bonardi; M. Rizzet 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 175 KB