Apolipoprotein C-II deficiency with no rare variant in the APOC2 gene.

doi:10.5551/jat.16592

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Article

Apolipoprotein C-II deficiency with no rare variant in the APOC2 gene.

Journal of atherosclerosis and thrombosis - 1 Jan 2013

Takase Satoru, Osuga Jun-ichi, Fujita Hayato, Hara Kazuo, Sekiya Motohiro, Igarashi Masaki, Takanashi Mikio, Takeuchi Yoshinori, Izumida Yoshihiko, Ohta Keisuke, Kumagai Masayoshi, Nishi Makiko, Kubota Midori, Masuda Yukari, Taira Yoshino, Okazaki Sachiko, Iizuka Yoko, Yahagi Naoya, Ohashi Ken, Yoshida Hiroshi, Yanai Hidekatsu, Tada Norio, Gotoda Takanari, Ishibashi Shun, Kadowaki Takashi, Okazaki Hiroaki

Abstract excerpt

AIM: Familial apolipoprotein C-II (apoC-II) deficiency is a rare autosomal recessive disorder with marked hypertriglyceridemia resulting from impaired activation of lipoprotein lipase. In most cases of apoC-II deficiency, causative mutations have been found in the protein-coding region of APOC2; however, several atypical cases of apoC-II deficiency were reported to have markedly reduced, but detectable levels of...

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PMID: 23470567
DOI: 10.5551/jat.16592

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APOC2

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