rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
|
18996919 |
2009 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.
|
10627137 |
1998 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.
|
7891382 |
1994 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
|
8182080 |
1994 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.
|
7959683 |
1994 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.
|
7693712 |
1993 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.
|
7906591 |
1993 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.
|
1284475 |
1992 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern.
|
1339453 |
1992 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfecta.
|
1385413 |
1992 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.
|
1874719 |
1991 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
|
2777764 |
1989 |
rs66716547
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.
|
2914942 |
1989 |