Articles with "update mutation" as a keyword



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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

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Published in 2017 at "Human Mutation"

DOI: 10.1002/humu.23128

Abstract: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene,… read more here.

Keywords: spectrum patient; wrn mutation; mutation update; update mutation ... See more keywords