Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C
- 1 April 2000
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 66 (4), 1192-1198
- https://doi.org/10.1086/302836
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- LMNA, encoding lamin A/C, is mutated in partial lipodystrophyNature Genetics, 2000
- Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System DiseaseNew England Journal of Medicine, 1999
- Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22Nature Genetics, 1998
- Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylationCell, 1993
- The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domains.The Journal of cell biology, 1990
- Lamins A and C bind and assemble at the surface of mitotic chromosomes.The Journal of cell biology, 1990
- Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteinsNature, 1986
- Rare Bases in Animal DNANature, 1970
- Methylation of DNA in developing sea urchin embryosJournal of Molecular Biology, 1968
- Distribution of 5-methylcytosine in pyrimidine sequences of deoxyribonucleic acidsBiochimica et Biophysica Acta, 1962