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Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain.

Ramón PecesRocío MenaCarlos PecesPilar BarruzHernando TrujilloAgustín CarreñoLaura EspinosaRafael SelgasPablo LapunzinaJulián Nevado
Published in: Clinical kidney journal (2021)
Keyphrases
  • type iii
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation