|
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 |
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 |
BEFREE |
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.
|
2875936 |
1986 |
|
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 |
BEFREE |
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
|
28183226 |
2017 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Inferring the functional effects of mutation through clusters of mutations in homologous proteins.
|
20052764 |
2010 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
|
8019562 |
1994 |
|
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 |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.
|
8514866 |
1993 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV.
|
12786757 |
2003 |
|
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 |
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.
|
9147870 |
1996 |
|
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 |
BEFREE |
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.
|
10923041 |
2000 |
|
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 |
Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by type III procollagen gene (COL3A1) mutations.
|
21219851 |
2011 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Subsequent biochemical and genetic analysis confirmed the diagnosis of Ehlers-Danlos syndrome type IV based on abnormal production of type III procollagen and a novel mutation in the COL3A1 gene.
|
12173720 |
2002 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
|
18043893 |
2008 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
|
8664902 |
1996 |
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
|
9452103 |
1998 |