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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry

June 14 2017
Genetic background in gypsy ethnicity; SLC12A3 gene; Gitelman's syndrome; Gypsy patients; Patients from Rome background; SLC12A3 gene; Gitelman's syndrome

We report a second founder mutation among GS patients of Roma ethnic background. The direct screening of this mutation would facilitate the characterization of patients who are negative for the more common intron 9 +1G>T mutation.