|
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 |
UNIPROT |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report.
|
23374456 |
2013 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Vascular type of Ehlers-Danlos syndrome in a patient with ruptured aneurysm of the splenic artery.
|
17122455 |
2006 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1.
|
28742248 |
2017 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
MGD |
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.
|
9050868 |
1997 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.
|
9050868 |
1997 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
|
29551664 |
2018 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
|
24399159 |
2014 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
|
24399159 |
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 |
UNIPROT |
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 |
UNIPROT |
This is usually a biochemical characteristic of EDS IV, caused by mutations of COL3A1.
|
7833919 |
1994 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The novel mutation identified in this study is potentially responsible for Ehlers-Danlos syndrome type IV in this patient, and expands the spectrum of COL3A1 mutations.
|
25776230 |
2015 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied.
|
1757960 |
1991 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
|
7749417 |
1995 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
|
7912131 |
1994 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
|
1496983 |
1992 |