The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated prematu...
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging
About this item
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Publisher
England: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
England: John Wiley & Sons, Inc
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Scope and Contents
Contents
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 aging led to the identification of a mutation, c.784G>A, in LMNA, resulting in...
Alternative Titles
Full title
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9649601
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9649601
Other Identifiers
ISSN
1474-9718
E-ISSN
1474-9726
DOI
10.1111/acel.13688
