|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
|
27510842 |
2017 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
|
27509835 |
2016 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
|
24668929 |
2014 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
|
18996919 |
2009 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
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, 2
|
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, 2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
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, 2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.
|
11359465 |
2001 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The human type I collagen mutation database.
|
9016532 |
1997 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.
|
9099837 |
1997 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
The human type I collagen mutation database.
|
9016532 |
1997 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
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, 2
|
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, 2
|
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, 2
|
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, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.
|
1990009 |
1991 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
|
0.100 |
GeneticVariation
|
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, 2
|
0.100 |
GeneticVariation
|
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, 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
|
6092353 |
1984 |