rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
|
23313286 |
2013 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
|
23853504 |
2013 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.
|
22700598 |
2012 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.
|
19201734 |
2009 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Laminopathies: multisystem dystrophy syndromes.
|
16364671 |
2006 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.
|
16415042 |
2006 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
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 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.
|
10868844 |
2000 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.
|
10999845 |
2000 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
|
10655060 |
2000 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
|
10587585 |
2000 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase.
|
2007407 |
1991 |