Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation
- 1 April 1995
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 95 (4) , 437-439
- https://doi.org/10.1007/bf00208971
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.Keywords
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