...COL5A2 was excluded in two other families with EDS I while a fourth family was concordant for linkage to COL5A1 (Z = 2.1...
...COL5A2 (Z = 9.93 at theta = 0) or D2S24 (Z = 10.55 at theta = 0). The locus order is (D2S32-D2S138-D2S148)--(D2S24-COL5A...
...COL5A2) collagen genes. This revealed that COL3A1 is the most closely related gene to COL5A2. Based on the assumption th...
...col5a2) after the cloning and sequencing of cDNAs that cover the entire length of the message. Transcripts of col5a2, de...
...COL5A2/protein interactions. Thus, COL5A2 expression appears to be under the positive control of a short regulatory sequ...
...COL5A2, which is localized together with other collagen genes on chromosome 2.
...COL5A2) and type VI alpha 3 chain (COL6A3) unambiguously in both families. The simultaneous exclusion of both the type 1...
...COL5A2, allowed us to exclude these genes as the mutant loci. Supporting this, electrophoretic analysis of collagens der...
The genes encoding the alpha 1 chain of Type III collagen (COL3A1) and the alpha 2 chain of Type V (COL5A2) collagen hav...
...COL5A2, and a third member of the collagen gene family: COL6A3. Furthermore, genes for elastin (ELN) and fibronectin (FN...
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