|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
UNIPROT |
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 |
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 |
UNIPROT |
A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.
|
1357232 |
1992 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.
|
1370809 |
1992 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.
|
1370809 |
1992 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
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 |
|
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 |
UNIPROT |
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
|
1895316 |
1991 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV.
|
1905723 |
1991 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.
|
1998337 |
1991 |
|
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 base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
|
2145268 |
1990 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Experiments were carried out to test the hypothesis that familial aortic aneurysms, either thoracic or abdominal, are caused by mutations in the gene for type III procollagen (COL3A1) similar to mutations in the same gene that have been shown to cause rupture of aorta and other disastrous consequences in the rare genetic disorder known as Ehlers-Danlos syndrome type IV.
|
2243125 |
1990 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Experiments were carried out to test the hypothesis that familial aortic aneurysms, either thoracic or abdominal, are caused by mutations in the gene for type III procollagen (COL3A1) similar to mutations in the same gene that have been shown to cause rupture of aorta and other disastrous consequences in the rare genetic disorder known as Ehlers-Danlos syndrome type IV.
|
2243125 |
1990 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Experiments were carried out to test the hypothesis that familial aortic aneurysms, either thoracic or abdominal, are caused by mutations in the gene for type III procollagen (COL3A1) similar to mutations in the same gene that have been shown to cause rupture of aorta and other disastrous consequences in the rare genetic disorder known as Ehlers-Danlos syndrome type IV.
|
2243125 |
1990 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
|
2349939 |
1990 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
|
2349939 |
1990 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
|
2349939 |
1990 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.
|
2365710 |
1990 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.
|
2492273 |
1989 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.
|
2808425 |
1989 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
|
2834369 |
1988 |