A novel frame-shift mutation in scnn1b identified in a chinese family characterized by early-onset hypertension

HIGHLIGHTS

  • who: Fang Luo and Xian-Liang Zhou from the Oregon Health and Science University, United States have published the research: A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension, in the Journal: (JOURNAL)
  • what: The authors report a Chinese family with Liddle syndrome and identify a novel frame-shift mutation (c.1691_1693delinsG) in SCNN1B by whole-exome sequencing.
  • how: Sanger sequencing results indicated that there were eight additional family members affected with the causative mutation but it was not found in any of the 100 . . .

     

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