|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.
|
18670065 |
2008 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.
|
10408781 |
1999 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
|
9101304 |
1997 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
|
8723681 |
1996 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
|
8669434 |
1996 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
|
7881420 |
1994 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
|
8019571 |
1994 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.
|
8364588 |
1993 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
|
7691343 |
1993 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.
|
8456809 |
1993 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
|
1770532 |
1991 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
|
2037280 |
1991 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.
|
2511192 |
1989 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
|
2794057 |
1989 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
26177859 |
2015 |
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
25944380 |
2015 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.
|
25086671 |
2014 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
|
22589248 |
2012 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
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 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
|
8669434 |
1996 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
|
2037280 |
1991 |