rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.
|
24485160 |
2014 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
|
19220582 |
2009 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
|
17250669 |
2007 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
|
15372542 |
2004 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
|
12629077 |
2003 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
|
12196663 |
2002 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
|
12015247 |
2002 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
|
11792809 |
2001 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
|
10655060 |
2000 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
10739751 |
2000 |
rs57520892
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
|
10587585 |
2000 |
rs57520892
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|