|
rs72653169
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
|
9600458 |
1998 |
|
rs72653169
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.
|
7982948 |
1994 |
|
rs72653169
|
|
Osteogenesis imperfecta type IV (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 |
|
rs72653169
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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 |
|
rs72653169
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.
|
8339541 |
1993 |
|
rs72653169
|
|
Osteogenesis imperfecta type IV (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 |
|
rs72653169
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
|
1988452 |
1991 |
|
rs72653169
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
|
2745420 |
1989 |
|
rs66501246
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs66527965
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs66883877
|
|
Osteogenesis imperfecta type IV (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 IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
|
rs66883877
|
|
Osteogenesis imperfecta type IV (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 IV (disorder)
|
|
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 |
|
rs66883877
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.
|
8401517 |
1993 |
|
rs66883877
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |
|
rs66883877
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.
|
1642148 |
1992 |
|
rs66883877
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
|
2052622 |
1991 |
|
rs66883877
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
|
2064612 |
1991 |
|
rs66883877
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.
|
2897363 |
1988 |
|
rs67182491
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs67507747
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.
|
17875077 |
2007 |
|
rs67507747
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
|
rs67507747
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
|
rs67507747
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
|
9600458 |
1998 |