Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.
|
25958000 |
2015 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
|
18996919 |
2009 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
|
8786074 |
1996 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.
|
7520724 |
1994 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
|
8100209 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
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, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.
|
8364588 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.
|
1460047 |
1992 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
|
1613761 |
1992 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
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 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.
|
2035536 |
1991 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
|
1939261 |
1991 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
|
2037280 |
1991 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.
|
2339700 |
1990 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks.
|
2116413 |
1990 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.
|
2211725 |
1990 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.
|
3403550 |
1988 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.
|
3667599 |
1987 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.
|
3108247 |
1987 |
Osteogenesis imperfecta, dominant perinatal lethal
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
|
3016737 |
1986 |