Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
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- 作者：Marí ; a José ; Ariza ; PhDa ; mariza@uma.es" class="auth_mail" title="E-mail the corresponding author ; Pedro Luis Martí ; nez-Herná ; ndez ; MD ; PhDb ; Daiana Ibarretxe ; MDc ; Claudio Rabacchi ; PhDd ; José ; Rioja ; PhDa ; Cristina Grande-Aragó ; n ; PhDe ; Nuria Plana ; MD ; PhDc ; Patrizia Tarugi ; PhDd ; Gunilla Olivecrona ; PhDf ; Sebastiano Calandra ; MDg ; Pedro Valdivielso ; MD ; PhDa ; h
- 关键词：Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) ; Severe hypertriglyceridemia ; Recurrent pancreatitis ; Lipoprotein lipase activity
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：January-February 2016
- 年：2016
- 卷：10
- 期：1
- 页码：92-100.e1
- 全文大小：700 K
文摘
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We studied 2 patients with recurrent pancreatitis and severe hypertriglyceridemia.
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Patients exhibited low lipoprotein lipase activity but no rare variants in this gene.
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We identified 2 novel missense mutations in the GPIHBP1 gene.
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One patient was homozygous for the mutation c.239 C>A, ACG>AAG, p.Thr80>Lys.
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The other patient was homozygous for the mutation c.3 G>T, ATG>ATT, p.Met1>Ile.