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Lookup NU author(s): Professor John Loughlin
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We have developed a mutation detection strategy that combines single strand conformational polymorphism (SSCP) analysis of one strand of a double-stranded amplification product with direct sequencing of the other. Using this strategy, which we find economical of both time and resources, we have identified a G to A transition, which substitutes a serine for glycine residue at position 862 in the major helix of the alpha 1 chain of Type I collagen. We use this mutation, which causes a lethal form of osteogenesis imperfecta, to illustrate the technique.
Author(s): Virdi AS, Loughlin JA, Irven CM, Goodship J, Sykes BC
Publication type: Article
Publication status: Published
Journal: Human Genetics
Print publication date: 01/03/1994
ISSN (print): 0340-6717
Notes: Case Reports
Research Support, Non-U.S. Gov't
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