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.
Abstract
摘要
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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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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
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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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