...COL1A1 and COL1A2 and restriction site dimorphisms have been described at each locus. Genetic factors have been invoked ...
...Col1a1 gene to encode amino acid substitutions in sequences around the known collagenase cleavage site (glycine-isoleuci...
...COL1A1 and COL1A2) were found to be inherited independently of the abnormal phenotype. Two pedigrees were discordant at ...
...COL1A1 allele. Loss of an allele through deletion or rearrangement was not the cause of the diminished COL1A1 mRNA level...
...COL1A1 or COL1A2 genes have been associated with many cases of osteogenesis imperfecta. This gly325-to-arg substitution ...
...Col1a1) gene as well as 40 kb clones from the Hox-2 locus. To characterize the representation of the YAC library, the si...
...Col1a1 locus into murine fibroblasts carrying a mutation at this locus. The YAC DNA was fractionated by pulse field elec...
...COL1A1, but not COL1A2 was excluded in one and COL1A2, but not COL1A1 was excluded in the second. There was no suggestio...
...COL1A1: Zmax = +0.97, theta = 0.00) and markers near the keratin 5 gene on chromosome 12 were excluded (D12S17: Z less t...
...COL1A1 and COL1A2) or type-III collagen (COL3A1). Here, we performed linkage studies for these three genes in large Azer...
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