rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
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
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
C
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
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
10425041
1999
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
10441597
1999
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
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
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
8909500
1996
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
7738200
1995
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
7870075
1994
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
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
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
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
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
A new missense mutation of fibrillin in a patient with Marfan syndrome.
8071963
1994
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
8281141
1993
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
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
rs140603
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
C
0.800
GeneticVariation
CLINVAR