Mutation Screening of the AT-III Gene in Pregnant and Post-Partum Women With Venous Thromboembolism by DHPLC

Discordant diagnoses obtained by different approaches in antithrombin mutation analysis

“…We here show that ten out of 16 persons with a biochemical antithrombin deficiency, but a negative AT mutation analysis, came out positive when investigated by direct sequencing omitting pre-selection by DHPLC. This is important information since DHPLC for a long period of time has been used in detection of AT mutations [7].…”