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Table 1 Main demographic characteristics and genotype of patients with congenital chloride diarrhea

From: Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea

Patient Age at diagnosis Age the enrollment Sex Ethnic origin Body weight (kg) SLC26A3 genotype Type of mutation
1 6.5 y 16 y M Caucasian 70 c.1484A > C* Missense
c.1640C > A*
2 4 m 3 y M Caucasian 22 c.386C > T Missense
c.386C > T
3 6 y 12 y M Caucasian 32 c.1008-151_2061 + 1546del* Deletion
c.1008-151_2061 + 1546del*
4 3 m 18 y F Caucasian 58 c.2132 T > G Nonsense
c.2132 T > G
5 1 m 18 y M African 55 c.559G > T Nonsense
c.559G > T
6 1 m 15 y M African 57 c.559G > T Nonsense
c.559G > T
7 10 m 1.5 y M Caucasian 10 c.1408-G > C* Splicing
c.1408-G > C*
  1. *Novel mutations.