The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins
Author:
Publisher
Elsevier BV
Subject
Cell Biology
Reference26 articles.
1. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?;van Berlo;J. Mol. Med.,2005
2. Lamin a/c mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy;van der Kooi;Neurology,2002
3. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease;Fatkin;N. Engl. J. Med.,1999
4. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C;Lin;J. Biol. Chem.,1993
5. Isoprenylation is required for the processing of the lamin A precursor;Beck;J. Cell Biol.,1990
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