rs137854461
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
|
12938084 |
2003 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
|
16220557 |
2005 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
|
7738200 |
1995 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
|
10425041 |
1999 |
rs137854461
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
rs137854461
|
|
C |
0.820 |
GeneticVariation |
CLINVAR |
|
|
|
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We have also investigated the effect of defective calcium binding to cbEGF32 on fibrillin-1 produced by N2144S MFS fibroblasts.
|
9887276 |
1999 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A new missense mutation of fibrillin in a patient with Marfan syndrome.
|
8071963 |
1994 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
|
9254848 |
1997 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
8406497 |
1993 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
|
12203992 |
2002 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
7870075 |
1994 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
rs137854461
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
|
16220557 |
2005 |
rs137854461
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
|
8504310 |
1993 |
rs137854461
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
An MFS-causing mutation, N2144S, which removes a calcium ligand in cbEGF32, does not detectably affect fibrillin-1 biosynthesis, rate of secretion, processing, or deposition of reducible fibrillin-1 into the ECM.
|
11829507 |
2002 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
|
7951214 |
1994 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
|
8909500 |
1996 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
|
25173340 |
2014 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |