Clinical whole exome sequencing in severe hypertriglyceridemia.

Hayato Tada,Akihiro Nomura,Hirofumi Okada,Takuya Nakahashi,Tsuyoshi Nozue,Kenshi Hayashi,Atsushi Nohara,Kunimasa Yagi,Akihiro Inazu,Ichiro Michishita,Hiroshi Mabuchi,Masakazu Yamagishi,Masa-Aki Kawashiri

Clinica Chimica Acta（2019）

引用 7|浏览66

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摘要

•Whole exome sequencing identified causative mutations in 32% of the individuals with severe HTG.•LPL and its associated proteins play an important role in this extreme situation.•Molecular diagnosis may provide appropriate therapies.

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关键词

Exome sequencing,Familial hyperchylomicronemia,Triglyceride,Lipoprotein lipase deficiency

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