...COL2A1 gene-associated RFLPs. A total of 17 affected and unaffected members of this family were studied. The family was ...
...COL2A1) locus and clustered loci D12S14, D12S17, and D12S6, which segregate as a three-marker haplotype. Linkage disequi...
...COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem duplication of 45 base ...
...COL2A1 gene may cause type II achondrogenesis-hypochondrogenesis. More generally, emerging data implicating defects of t...
...COL2A1) has been directly examined in a relatively large SED family. Coarse scanning of the gene by Southern blot hybrid...
...COL2A1). Genetic linkage between AO and COL2A1 was demonstrated in the largest family, with a maximum LOD score of 3.52 ...
We have, using in situ hybridization technique, localized the human type II alpha 1 collagen gene (COL2A1) to chromosome...
...COL2A1. No rearrangement or amplification could be detected for any of the three gene sequences.
The involvement of the cartilage specific type II collagen gene (COL2A1) was studied in nine patients with diastrophic d...
...COL2A1) was used as probe in the Southern analysis of DNA from a panel of human/hamster somatic cell hybrids containing ...
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