A novel p.Ser282Pro variant is associated with autosomal dominant hereditary pancreatitis.
作者信息
Kujko Aleksandra A, Berki Dorottya M, Oracz Grzegorz, Wejnarska Karolina, Antoniuk Justyna, Wertheim-Tysarowska Katarzyna, Kołodziejczyk Elwira, Bal Jerzy, Sahin-Tóth Miklós, Rygiel Agnieszka M
机构信息
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA.
出版信息
Gut. 2017 Sep;66(9):1728-1730. doi: 10.1136/gutjnl-2017-313816. Epub 2017 Mar 3.
Abstract
摘要
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本文引用的文献
1
Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis.错误折叠的阳离子胰蛋白酶原变体p.L104P导致遗传性胰腺炎。
Gut. 2017 Sep;66(9):1727-1728. doi: 10.1136/gutjnl-2016-313451. Epub 2016 Dec 23.
2
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.CPA1 中的变异与早发性慢性胰腺炎密切相关。
Nat Genet. 2013 Oct;45(10):1216-20. doi: 10.1038/ng.2730. Epub 2013 Aug 18.
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