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Volume 55, Issue 6, Pages 2530-2531 (June 1999)
Two novel mutations in the β subunit of the human epithelial sodium channel Manuela Födinger, Robert Fritsche-Polanz, Dagmar Schedler, Walter H. Hörl, Gere Sunder-Plassmann Kidney International Volume 55, Issue 6, Pages (June 1999) DOI: /j x Copyright © 1999 International Society of Nephrology Terms and Conditions
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Figure 1 Nucleotide sequence analysis of hβENaC. The mutated (MT) and the wild-type (WT) nucleotide sequence of the carboxy terminal domain of hβENaC showing (A) the 1700C>T transition resulting in a Ala567Val substitution in a 73-year-old female patient maintained on hemodialysis treatment for two years. She had a long lasting history of uncontrolled hypertension resulting in hypertensive nephrosclerosis as the cause for end-stage renal disease. (B) The synonymous 1776G>A mutation at codon 592 of a 65-year-old male patient maintained on chronic hemodialysis treatment for one year because of diabetic nephropathy. Kidney International , DOI: ( /j x) Copyright © 1999 International Society of Nephrology Terms and Conditions
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