Title : Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.

Pub. Date : 2020 Nov 16

PMID : 33191723






2 Functional Relationships(s)
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1 Genetic analysis demonstrated that the patient had a SLC26A3 c.269_270dupAA homozygous mutation in exon 3, leading to a frameshift from 91st amino acid Gly and alteration of the SLC26A3 transmembrane protein sequence, thus resulting in a Cl-/HCO3- exchange barrier. Bicarbonates solute carrier family 26 member 3 Homo sapiens
2 Genetic analysis demonstrated that the patient had a SLC26A3 c.269_270dupAA homozygous mutation in exon 3, leading to a frameshift from 91st amino acid Gly and alteration of the SLC26A3 transmembrane protein sequence, thus resulting in a Cl-/HCO3- exchange barrier. Bicarbonates solute carrier family 26 member 3 Homo sapiens