Articles with "causing missense" as a keyword



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Unique cell biological profiles of retinal disease-causing missense mutations in the polarity protein Crumbs

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Published in 2017 at "Journal of Cell Science"

DOI: 10.1242/jcs.197178

Abstract: ABSTRACT Mutations in human crumbs 1 (CRB1) are a major cause of retinal diseases that lead to blindness. CRB1 is a transmembrane protein found in the inner segment of photoreceptor cells (PRCs) and the apical… read more here.

Keywords: crb; disease causing; missense mutations; cell ... See more keywords