Identification of two de novo variants causing inherited antithrombin deficiency by quantitative analysis of variant alleles

Tomoki Togashi,Satomi Nagaya,Makiko Meguro-Horike, Haruto Matsumoto,Yuta Imai,Koichi Yamaguchi, Yoshinari Fujii, Haruka Moriya, Yuika Kikuchi, Ibuki Yasuda,Shin-ichi Horike,Eriko Morishita

Thrombosis Research（2024）

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摘要

•We identified seven variants in antithrombin-deficient patients.•Two de novo variants were detected by droplet digital PCR and pyrosequencing.•Our findings provide new insights on the diverse variants in antithrombin deficiency.

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关键词

Antithrombin,Inherited antithrombin deficiency,Thrombophilia,Large deletion,de novo variant

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