|
rs137854461
|
|
C |
0.820 |
GeneticVariation |
CLINVAR |
|
|
|
|
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
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
|
8281141 |
1993 |
|
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 mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
7870075 |
1994 |
|
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 |
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
|
8004112 |
1994 |
|
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
|
|
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 |
|
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 |
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 |
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
|
10425041 |
1999 |
|
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 |
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
|
10441597 |
1999 |
|
rs137854461
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In this study we have used three proteases to probe structural changes caused by an N2144S MFS calcium binding mutation in a TB6-cbEGF32 and a cbEGF32-33 domain pair, and an N2183S mutation in the cbEGF32-33 pair.
|
10942427 |
2000 |
|
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |
|
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
|
|
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 |
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|
11826022 |
2002 |
|
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 |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
|
rs137854461
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
|
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
|
|
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 |