Article
Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations.
Genetic testing - 1 Jan 2001
Taliani M R, Roberts S C, Dukek B A, Pruthi R K, Nichols W L, Heit J A
Abstract excerpt
Screening methods for unknown DNA sequence variations are laborious, expensive, and relatively insensitive. To evaluate the sensitivity and specificity of denaturing high-pressure liquid chromatography (DHPLC) screening for unknown protein C gene (PROC) mutations, we studied 31 PROC-deficient patients. Eleven amplimers containing 4 kb of the PROC gene and spanning all exons, splice junctions, and the putative...
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