Key result
Genetic analyses in a 13-year-old boy and his family demonstrated that PROC and PROS gene mutations modulate the clinical expression of the prothrombin G20210A mutation in familial thrombophilia.
Case Report
Familial thrombophilia is an oligogenetic and multifactorial disease where additional mutations modulate the clinical expression of mild mutations like prothrombin G20210A.
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Supports oligogenetic modulation in familial thrombophilia; leaves open whether PROC/PROS testing refines risk stratification in G20210A carriers.
Boinot et al. (2003) conducted a case report in Familial thrombophilia. Prothrombin G20210A, PROC, and PROS gene mutations was evaluated on Clinical expression of thrombosis. Genetic analyses in a 13-year-old boy and his family demonstrated that PROC and PROS gene mutations modulate the clinical expression of the prothrombin G20210A mutation in familial thrombophilia.
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