Title : A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.

Pub. Date : 2020 Nov

PMID : 32951339






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl- /HCO3- , Na+ -independent exchanger. Bicarbonates solute carrier family 26 member 3 Homo sapiens
2 CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl- /HCO3- , Na+ -independent exchanger. Bicarbonates solute carrier family 26 member 3 Homo sapiens