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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
JCI Insight. 2018 Oct 18;3(20):e99631. doi: 10.1172/jci.insight.99631.
JCI Insight. 2018.
PMID: 30333321
Free PMC article.
SLC26A7 protein is a chloride/bicarbonate exchanger and its abundance is osmolarity- and pH-dependent in renal epithelial cells.
Ullah AKMS, Rumley AC, Peleh V, Fernandes D, Almomani EY, Berrini M, Lashhab R, Touret N, Alexander RT, Herrmann JM, Cordat E.
Ullah AKMS, et al.
Biochim Biophys Acta Biomembr. 2020 Jun 1;1862(6):183238. doi: 10.1016/j.bbamem.2020.183238. Epub 2020 Feb 28.
Biochim Biophys Acta Biomembr. 2020.
PMID: 32119864
Free article.
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