DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death
2012
The LMNA gene encodes lamin A/C intermediate filaments that polymerize beneath the nuclear membrane,and are also found in the nucleoplasm in an uncharacterized assembly state. They are thought to have struc-tural functions and regulatory roles in signaling pathways via interaction with transcription factors.Mutations in LMNA have been involved in numerous inherited human diseases, including severe congenitalmuscular dystrophy (L-CMD). We created theLmna
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