rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
The solution structure of human epidermal growth factor.
3495735
1987
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Epidermal growth factor. Location of disulfide bonds.
4750422
1973
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
21135753
2011
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
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
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Fibrillin-1 misfolding and disease.
16677079
2006
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
The molecular genetics of Marfan syndrome and related disorders.
16571647
2006
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
10486319
1999
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
19533785
2009
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
22539340
2012
rs1566935517
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
7611299
1995