Genotype‐phenotype analysis of LMNA‐related diseases predicts phenotype‐selective alterations in lamin phosphorylation

Laminopathies are rare diseases associated with mutations in LMNA, which encodes nuclear lamin A/C. LMNA variants lead to diverse tissue‐specific phenotypes including cardiomyopathy, lipodystrophy, myopathy, neuropathy, progeria, bone/skin disorders, and overlap syndromes. The mechanisms underlying...

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Veröffentlicht in:The FASEB journal 2020-07, Vol.34 (7), p.9051-9073
Hauptverfasser: Lin, Eric W., Brady, Graham F., Kwan, Raymond, Nesvizhskii, Alexey I., Omary, M. Bishr
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Sprache:eng
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