Serum Sitosterol Level Predicting ABCG5 or ABCG8 Genetic Mutations.

Nobuko Kojima,Hayato Tada,Soichiro Usui,Kenji Sakata,Kenshi Hayashi,Atsushi Nohara,Akihiro Inazu,Masayuki Takamura,Masa-Aki Kawashiri

Clinica Chimica Acta（2020）

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摘要

•Some of the heterozygous mutation carriers showed serum sitosterol level >10 μg/ml.•A cutoff value of sitosterol 15 μg/ml appears to be best predicting ABCG5/ABCG8 mutations.•Genetic analysis should be considered when sitosterol level >15 μg/ml.

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关键词

Sitosterolemia,Familial hypercholesterolemia,Sitosterol,ABCG5,ABCG8

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