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Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation
A Winterpacht1, K Hilbert, U Schwarze
1Children's Hospital, University of Mainz, Germany.
Human Genetics
|April 1, 1995
Abstract:
We have developed a protocol that allows fast and efficient mutation screening of the 54 exons from the type II procollagen (COL2A1) gene. The protocol is based on the multiple non-radioactive hybridization of blotted single-strand conformation polymorphism gels. Using this screening procedure we have been able to identify a new (Gly895 to Ser) mutation in the COL2A1 gene of a patient with a mild form of spondyloepiphyseal dysplasia congenita.