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A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.一种导致阳离子胰蛋白酶原基因中R122H突变的CGC>CAT基因转换样事件及其在胰腺炎基因分型中的意义。
J Med Genet. 2000 Nov;37(11):E36. doi: 10.1136/jmg.37.11.e36.
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Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.通过变性高效液相色谱法鉴别导致人阳离子胰蛋白酶原（PRSS1）R122主要自溶位点破坏的三种突变事件。
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引用本文的文献

1
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.慢性胰腺炎患者中阳离子胰蛋白酶原（PRSS1）与假基因胰蛋白酶原6（PRSS3P2）之间的基因转换
Hum Mutat. 2015 Mar;36(3):350-6. doi: 10.1002/humu.22747.
2
Genetics of acute and chronic pancreatitis: An update.急性和慢性胰腺炎的遗传学：最新进展
World J Gastrointest Pathophysiol. 2014 Nov 15;5(4):427-37. doi: 10.4291/wjgp.v5.i4.427.
3
Strong purifying selection against gene conversions in the trypsin genes of primates.强烈的净化选择作用导致灵长类动物胰蛋白酶基因中的基因转换受到抑制。
Hum Genet. 2012 Nov;131(11):1739-49. doi: 10.1007/s00439-012-1196-9. Epub 2012 Jun 30.
4
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.基因内重复：遗传性胰腺炎的一种新型突变机制。
Pancreas. 2011 May;40(4):540-6. doi: 10.1097/MPA.0b013e3182152fdf.
5
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.人类阳离子胰蛋白酶原（PRSS1）变异体分类中的不确定性，作为遗传性胰腺炎相关突变。
J Med Genet. 2010 May;47(5):348-50. doi: 10.1136/jmg.2009.072751.
6
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.人类阳离子胰蛋白酶原（PRSS1）突变与慢性胰腺炎
Hum Mutat. 2006 Aug;27(8):721-30. doi: 10.1002/humu.20343.
7
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.一名六岁女孩中与慢性胰腺炎相关的功能性胰蛋白酶原基因PRSS1和PRSS2之间的基因转换。
Hum Mutat. 2005 Apr;25(4):343-7. doi: 10.1002/humu.20148.
8
[Clinical implications of genetic risk factors of chronic pancreatitis].
Internist (Berl). 2005 Feb;46(2):123-30. doi: 10.1007/s00108-004-1320-6.
9
Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.遗传性和非遗传性慢性胰腺炎中PRSS1突变的缺失及SPINK1胰蛋白酶抑制剂突变的相关性
Gut. 2004 May;53(5):723-8. doi: 10.1136/gut.2003.026526.
10
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.通过变性高效液相色谱法鉴别导致人阳离子胰蛋白酶原（PRSS1）R122主要自溶位点破坏的三种突变事件。
BMC Genet. 2001;2:19. doi: 10.1186/1471-2156-2-19. Epub 2001 Nov 19.

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.

作者信息

Chen J M, Raguenes O, Ferec C, Deprez P H, Verellen-Dumoulin C

出版信息

J Med Genet. 2000 Nov;37(11):E36. doi: 10.1136/jmg.37.11.e36.

DOI:10.1136/jmg.37.11.e36
PMID:11073545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734483/
Abstract
摘要