×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
GeneticVariation
CLINVAR
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Lamin a truncation in Hutchinson-Gilford progeria .
12702809
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
A new lamin a mutation associated with acrogeria syndrome.
24687084
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.
23659872
2013
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Altered splicing in prelamin A-associated premature aging phenotypes.
17076270
2006
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
22065502
2011
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Here we present two patients with extraordinarily severe forms of progeria caused by unusual mutations in LMNA .
17469202
2007
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.
23497705
2013
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Immunofluorescence of HGPS fibroblasts with antibodies directed against lamin A revealed that many cells show visible abnormalities of the nuclear membrane.
12714972
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
15317753
2004
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.
15121795
2004
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.
24639906
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
23804595
2013