rs137854461
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
|
12938084 |
2003 |
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 |
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
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
A mutation causing an Asn-2144 --> Ser amino acid change in one of the potential calcium binding residues has been described in a patient with the Marfan syndrome.
|
7896820 |
1995 |
rs137854462
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs137854467
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs137854478
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome.
|
10766875 |
2000 |
rs137854478
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.
|
17324963 |
2007 |
rs137854478
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
|
21784848 |
2011 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Ectopia lentis phenotypes and the FBN1 gene.
|
15054843 |
2004 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.
|
10930463 |
2000 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
|
17701892 |
2007 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
|
17663468 |
2007 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
|
17253931 |
2006 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
|
17627385 |
2007 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
|
19863550 |
2010 |
rs111984349
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
|
24161884 |
2014 |