SERPINC1 variants causing hereditary antithrombin deficiency in a Danish population.

Alisa D Kjaergaard,Ole Halfdan Larsen,Anne-Mette Hvas,Peter H Nissen

Thrombosis Research（2019）

引用 6|浏览14

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摘要

•Systematic report of SERPINC1 variants causing antithrombin deficiency in a Danish population•Variant detection rate was 100%.•p.(Pro73Leu), a type II HBS single nucleotide variant, was observed in 41% of all carriers.•The prevalence of type II HBS deficiency in the general population might be underestimated.

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关键词

SERPINC1,HBS,RS,PE,MLPA,DHPLC,ExAC,PolyPhen-2,PhD-SNP,MutPred2,AA,NA,ND,VTE,PE

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