Congenital Chloride-Losing Diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W

Congenital Chloride-Losing Diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W

Congenital chloride diarrhea is an autosomal recessive disease caused by mutations in the intestinal lumenal membrane Cl-/HCO3- exchanger, SLC26A3.We report here the novel SLC26A3 mutation G393W in a Mexican child, the first such report in a patient from Central America. SLC26A3 G393W expression in...

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Bibliographic Details
Main Authors: Fabian R. Reimold, Savithri eBalasubramanian, David eDoroquez, Boris E. Shmukler, Zsuzsanna K. Zsengeller, David eSaslowsky, Jay eThiagarajah, Isaac E. Stillman, Wayne eLencer, Bai-Lin eWu, Salvador eVillalpando-Carrion, Seth Leo Alper
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-06-01
Series:Frontiers in Physiology
Subjects:
Xenopus oocytes
chloride-bicarbonate exchange
Down-regulated in Adenoma
NaCl reabsorption
MDCK cells
Online Access:http://journal.frontiersin.org/Journal/10.3389/fphys.2015.00179/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fphys.2015.00179/full

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