|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.
|
10408781 |
1999 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
|
8800927 |
1996 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
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 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
|
7749416 |
1995 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.
|
7720740 |
1995 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.
|
7860070 |
1995 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.
|
7520724 |
1994 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
|
7881420 |
1994 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
|
8081394 |
1994 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
|
8444468 |
1993 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.
|
8456807 |
1993 |
|
rs66883877
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |