Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-). Mutations in the SLC26A4 gene alter the structure and (or) function of pendrin, which are closely related to Pendred syndrome. What's more, r...
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Frontiers Media S.A.,
2023-01-01T00:00:00Z.
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A1234.567 |
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