|
rs60310264
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
|
12768443 |
2003 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
|
15286156 |
2004 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
|
15622532 |
2005 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
|
12714972 |
2003 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
|
19933576 |
2010 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
|
15060110 |
2004 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA mutations in atypical Werner's syndrome.
|
12927431 |
2003 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA mutation in progeroid syndrome in association with strokes.
|
21791255 |
2012 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.
|
22355414 |
2012 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
|
23666920 |
2013 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
|
15286156 |
2004 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations have been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreifuss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.
|
15622532 |
2005 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
|
12714972 |
2003 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
|
15060110 |
2004 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
|
23666920 |
2013 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
|
19933576 |
2010 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.
|
22355414 |
2012 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
|
12768443 |
2003 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
LMNA mutation in progeroid syndrome in association with strokes.
|
21791255 |
2012 |
|
rs58912633
|
|
Progeria
|
|
0.730 |
GeneticVariation
|
UNIPROT |
LMNA mutations in atypical Werner's syndrome.
|
12927431 |
2003 |
|
rs56673169
|
|
Progeria
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs142000963
|
|
Progeria
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs79907212
|
|
Progeria
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
|
19933576 |
2010 |
|
rs79907212
|
|
Progeria
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
|
15286156 |
2004 |