×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1 ) in a compound-heterozygote Marfan syndrome (MFS ) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo.
7977366
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1 , possibly providing new insights into genotype-phenotype comparisons.
8136837
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome .
8040326
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
A new missense mutation of fibrillin in a patient with Marfan syndrome.
8071963
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Mutations of the fibrillin gene (FBN1 ) are known to cause classical Marfan's syndrome , ectopia lentis and neonatal Marfan's syndrome.
7870075
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Previously, mutations in the fibrillin-1 gene on chromosome 15 (FBN1 ) have been reported to cause MFS .
8281141
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome .
8406497
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
8504310
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome .
1301946
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
1569206
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome .
1301946
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
CLINGEN
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
1852208
1991
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
1852208
1991
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GermlineCausalMutation
ORPHANET
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
GENOMICS_ENGLAND