|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
BEFREE |
We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis.
|
12694234 |
2003 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
|
7487954 |
1995 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.
|
3162228 |
1988 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1.
|
23688910 |
2014 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three patients with Ehlers-Danlos syndrome type IV (EDS IV) and biochemical evidence of structural defects in collagen III were investigated for mutations within the collagen III gene (COL3A1).
|
8884076 |
1996 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, stroke is a well-known complication of several heritable connective tissue disorders, including Marfan's syndrome (FBN1 mutations) and Ehlers-Danlos syndrome type IV (COL3A1 mutations), which predispose to cervical artery dissection, the most frequent cause of cerebral ischemia at young age.
|
22113147 |
2012 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.
|
7665911 |
1995 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
|
8320698 |
1993 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.
|
8098182 |
1993 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have characterized a deletion of approximately 9 kilobases which spans from intron 33 to exon 48 of one pro-alpha 1 (III) collagen allele in a patient with Ehlers-Danlos syndrome type IV.
|
2002056 |
1991 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
|
1352273 |
1992 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.
|
11168790 |
2001 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
|
23489429 |
2013 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.
|
22492385 |
2012 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
|
25758994 |
2015 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management.
|
19248182 |
2009 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
|
22038052 |
2012 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
|
24922459 |
2014 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1).
|
10706896 |
2000 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
|
25758994 |
2015 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.
|
17728513 |
2007 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial occurrence and heritable connective tissue disorders in cervical artery dissection.
|
25355833 |
2014 |