Article
Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations.
Archives of pathology & laboratory medicine - 1 Jan 1994
DeMarchi J M, Beaudet A L, Caskey C T, Richards C S
Abstract excerpt
OBJECTIVE: To examine the use of partial automation for molecular analysis of cystic fibrosis and to evaluate the diagnostic experience gained. DESIGN: Twenty-four cystic fibrosis mutations, with cumulative mutation detection of 89% in North American whites and of 97% in the Ashkenazim, were tested by multiplex amplification and allele-specific oligonucleotide hybridization. SETTING: A university-based DNA...
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