Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
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DOI: 10.1073/pnas.2211087120
Abstract: Mutations in genes encoding molecular chaperones can lead to chaperonopathies, but none have so far been identified causing congenital disorders of glycosylation. Here we identified two maternal half-brothers with a novel chaperonopathy, causing impaired protein… read more here.
Keywords: c1galt1c1; cosmc; a20d cosmc; germline c1galt1c1 ... See more keywords