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Table 3 Mutations found in 61 patients with CHH

From: Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia

Gene Exon Mutation Number of patients
ABCC8 1 c.72C > A 4
   c.134C > T 2
  2 c.257 T > G 1
  3 c.331G > A 1
  4 c.563A > G 1
  5 c.742C > T 1
  12 c.1792C > T 1
  31 c.3992-9G > A 2
  36 c.4415-13G > A 2
KCNJ11   c.801C > G 2
   c.808C > G 2
   2 c.1142G > A. 2
GLUD1 6 c.37266C > T 1
  7 c.1019A > G 7
  10 c.49322G > T 1
GCK 6 c.1115C > T 2
  10 c.1829G > T 1