Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant
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DOI: 10.1523/eneuro.0046-19.2019
Abstract: Abstract Christianson syndrome (CS) is an X-linked neurogenetic disorder resulting from loss-of-function (LoF) mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). NHE6 regulates proton efflux from endosomes and, thus, participates in regulating… read more here.
Keywords: nhe6; lof mutations; vivo mouse; mouse ... See more keywords