...COL1A1 promoter and were sufficient for tissue-specific regulation of the COL1A1 gene. The combined upstream and intron ...
...COL1A1 and COL1A2) that encode the chains of type I procollagen or mutations that affect the expression of these genes. ...
...COL1A1 locus and 0.73 for COL1A2. Two COL1A1 and two COL1A2 RFLPs were more polymorphic than in the English population, ...
...COL1A1, and PKCA and D17Z1, respectively. The theta values calculated for GH1 versus COL1A1 or D17Z1 were 0.11 and 0.23,...
...COL1A1, COL1A2, COL3A1, and COL5A2 genes segregated independently of the phenotype; in the other family the results for ...
...COL1A1). These elements may interact with nuclear factors and play important roles in expression regulation of the beta-...
...COL1A1. The frameshift resulted in a truncated pro alpha 1(I) carboxyl-terminal propeptide in which the amino acid seque...
...COL1A1). The Marfan syndrome also segregated independently of the structural loci for Type II and Type III collagen in t...
...COL1A1 allele. This represents a new class of mutations, point mutations outside the triple-helical domain of the chains...
...COL1A1 has been found, as well as a theta = 0.10 between COL1A1 and GH1. The most likely order of the three loci is D17Z...
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