The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging
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DOI: 10.1111/acel.13688
Abstract: Deleterious, mostly de novo, mutations in the lamin A (LMNA) gene cause spatio‐functional nuclear abnormalities that result in several laminopathy‐associated progeroid conditions. In this study, exome sequencing in a sixteen‐year‐old male with manifestations of premature… read more here.
Keywords: laminopathy associated; e262k mutation; mutation; premature aging ... See more keywords