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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232112761
Abstract: Mutations in the apical Na-K-2Cl co-transporter, NKCC2, cause type I Bartter syndrome (BS1), a life-threatening kidney disease. We have previously demonstrated that the BS1 variant Y998X, which deprives NKCC2 from its highly conserved dileucine-like motifs,…
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Keywords:
motifs carboxyl;
diacidic motifs;
nkcc2;
carboxyl terminus ... See more keywords