Article
Normal and aberrant splicing of LMNA.
Journal of medical genetics - 1 Apr 2014
Luo Yue-Bei, Mastaglia Frank L, Wilton Steve D
Abstract excerpt
The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5' and 3' untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuclear lamina and have diverse physiological roles, ranging from mechanical nuclear membrane...
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