Nuclear Abnormalities in ILMNA/I p. Variant Segregating with ILMNA/I-Associated Cardiocutaneous Progeria Syndrome

The LMNA gene encodes lamin A and lamin C, which play important roles in nuclear organization. Pathogenic variants in LMNA cause laminopathies, a group of disorders with diverse phenotypes. There are two main groups of disease-causing variants: missense variants affecting dimerization and intermolec...

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Veröffentlicht in:	Genes 2024-01, Vol.15 (1)
Hauptverfasser:	Wilke, Matheus V. M. B, Wick, Myra, Schwab, Tanya L, Starosta, Rodrigo Tzovenos, Clark, Karl J, Connolly, Heidi M, Klee, Eric W
Format:	Artikel
Sprache:	eng
Schlagworte:	Aortic valve stenosis Glycine Progeria
Online-Zugang:	Volltext
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