Article
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
American journal of medical genetics - 15 May 2000
Körkkö J, Cohn D H, Ala-Kokko L, Krakow D, Prockop D J
Abstract excerpt
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The exons and flanking sequences of the 54 exons in the COL2A1 gene were amplified by a series of specific primers using PCR. The PCR products were scanned for mutations by conformation sensitive gel electrophoresis, and PCR products that generated heteroduplex bands were then sequenced....
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