|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
|
2993307 |
1985 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.
|
3372533 |
1988 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
|
6092353 |
1984 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.
|
7860070 |
1995 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
|
8094076 |
1993 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
|
8829649 |
1996 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The human type I collagen mutation database.
|
9016532 |
1997 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
The human type I collagen mutation database.
|
9016532 |
1997 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.
|
9272740 |
1997 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.
|
11288717 |
2001 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
|
15077201 |
2004 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
|
15241796 |
2004 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
|
16705691 |
2006 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
|
16816023 |
2006 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
|
17078022 |
2007 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
|
17078022 |
2007 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
|
21667357 |
2012 |