Article
Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing.
Neuromuscular disorders : NMD - 1 Jan 2000
Lenk U, Hanke R, Speer A
Abstract excerpt
Non-isotopic single-strand conformation polymorphism (SSCP) and direct sequencing was used for carrier diagnosis in four families of DMD/BMD patients with previously characterized point mutations, leading to the identification of eight carriers and four non-carriers. When the mutation caused a distinctly altered migration pattern of the single strands, in principle, the SSCP-technique allowed determination of...
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