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    • Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W 

      Reimold, Fabian R.; Balasubramanian, Savithri; Doroquez, David B.; Shmukler, Boris E.; Zsengeller, Zsuzsanna K.; Saslowsky, David; Thiagarajah, Jay R.; Stillman, Isaac E.; Lencer, Wayne I.; Wu, Bai-Lin; Villalpando-Carrion, Salvador; Alper, Seth L. (Frontiers Media S.A., 2015)
      Congenital chloride diarrhea is an autosomal recessive disease caused by mutations in the intestinal lumenal membrane Cl−/HCO−3 exchanger, SLC26A3. We report here the novel SLC26A3 mutation G393W in a Mexican child, the ...