rs137854480
×
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
rs137854480
×
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
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
17657824
2007
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
22772377
2013
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
11826022
2002
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
The revised Ghent nosology for the Marfan syndrome.
20591885
2010
rs137854480
×
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
rs137854480
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
0.800
GeneticVariation
UNIPROT
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
19533785
2009
rs137854480
×
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