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(−)/HCO(−)(3) 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 express...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477073/
https://www.ncbi.nlm.nih.gov/pubmed/26157392
http://dx.doi.org/10.3389/fphys.2015.00179

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