Articles with "allelic clinical" as a keyword



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Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes

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Published in 2018 at "Physiological Genomics"

DOI: 10.1152/physiolgenomics.00128.2017

Abstract: Mutations in the lamin A/C (LMNA) gene cause a broad range of clinical syndromes that show tissue-restricted abnormalities of post mitotic tissues, such as muscle, nerve, heart, and adipose tissue. Mutations in other nuclear envelope… read more here.

Keywords: heterogeneity lamin; nuclear envelope; mechanisms allelic; allelic clinical ... See more keywords