Articles with "l236p" as a keyword



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A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation.

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Published in 2019 at "Biochemical and biophysical research communications"

DOI: 10.1016/j.bbrc.2019.05.157

Abstract: SLC26A4 gene mutations lead to Pendred syndrome and non-syndromic hearing loss (DFNB4). The mouse model is well used to study the pathology of Pendred syndrome, however, mice with different Slc26a4 mutations exhibit different phenotypes, and… read more here.

Keywords: pendred syndrome; slc26a4; mouse model; mouse ... See more keywords