A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

Apostolos Zaravinos; Constantinos Deltas; Faten Tinsa; Gregory Papagregoriou; Khadija Boussetta; Konstantinos Voskarides; Majdi Nagara; Rym Kefi; Sahar Elouej; Sonia Abdelhak1; Zied Riahi

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A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

机译：突尼斯近亲血统的两个兄弟患有远端肾小管酸中毒的ATP6V0A4基因的新型剪接位点突变

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来源
《Journal of genetics》 |2014年第3期|共页
作者
Apostolos Zaravinos; Constantinos Deltas; Faten Tinsa; Gregory Papagregoriou; Khadija Boussetta; Konstantinos Voskarides; Majdi Nagara; Rym Kefi; Sahar Elouej; Sonia Abdelhak1; Zied Riahi;
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中图分类遗传学;
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1. A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family [J] . Nagara Majdi, Voskarides Konstantinos, Elouej Sahar, Journal of genetics . 2014,第3期

机译：突尼斯近亲血统的两个兄弟患有远端肾小管酸中毒的ATP6V0A4基因的新型剪接位点突变
2. A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family [J] . Apostolos Zaravinos, Constantinos Deltas, Faten Tinsa, Journal of genetics . 2014,第3期

机译：突尼斯近亲血统的两个兄弟患有远端肾小管酸中毒的ATP6V0A4基因的新型剪接位点突变
3. Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families [J] . Amitabh Chak, Sanford Markowitz, Joseph E. Willis, Molecular Genetics & Genomic Medicine . 2016,第3期

机译：ATP6V1B1和ATP6V0A4基因的突变在墨西哥家庭中引起隐性远端肾小管性酸中毒
4. Distal Renal Tubular Acidosis and Calcium Nephrolithiasis [C] . Orson W. Moe, Daniel G. Fuster, Xiao-Song Xie International Urolithiasis Research Symposium . 2008

机译：远端肾小管酸中毒和钙肾病症
5. Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity. [D] . Ochotny, Noelle Marie. 2006

机译：导致骨质疏松和远端肾小管酸中毒的人a3和a4突变对酵母V-ATPase表达和活性的影响。
6. Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families [O] . Laura I. Escobar, Christopher Simian, Cyrielle Treard, -1

机译：ATP6V1B1和ATP6V0A4基因的突变在墨西哥家庭中引起隐性远端肾小管性酸中毒
7. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes [O] . Donia Elhayek, Gustavo Perez de Nanclares, Slaheddine Chouchane, 2013

机译：突尼斯患者远端肾小管酸中毒的分子诊断：针对北非人群的ATP6V1B1，ATP6V0A4和SCL4A1基因的拟议算法

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

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