...COL6A3 (chromosome 2) as candidate genes. Mutations of the invariant glycine residues in the triple-helical domain-codin...
...COL6A3) located on chromosome 2q37. Analysis of 100 chromosomes in unrelated Caucasians has demonstrated the existence o...
...COL6A3 and COL1A1 between normal fetuses and those with trisomy 21. The ultrastructure of tissue samples was studied by ...
...COL6A3 is located within the interval of interest making COL6A3 a feasible candidate gene for the Bethlem myopathy.
...COL6A3 and PAX3 genes mapped in 2q37.3 and 2q36, respectively. While the PAX3 gene dosage appeared unaffected, the COL6A...
...COL6A3 (ref. 5). Sequence analysis in four families reveals a mutation in COL6A1 in one and a COL6A2 mutation in two oth...
...COL6A3 where LOD = 6.02), the map is consistent with the gene order for those loci (Cryg, Fn-1, Tp-1, Vil, Des, Col6a3) ...
...COL6A3) unambiguously in both families. The simultaneous exclusion of both the type 1 alpha 1 and alpha 2 chain genes in...
...COL6A3 linkage group and establishes a potential genetic relationship between the alpha 4 and alpha v integrin subunits.
...Col6a3-1.8 cM-lambda Mm1C-150-15.4 cM-Ren1,2. Four of these probes map within a chromosome 1 segment that is homologous ...
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