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| pubmed-article:11734061 | lifeskim:mentions | umls-concept:C0012632 | lld:lifeskim |
| pubmed-article:11734061 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:11734061 | lifeskim:mentions | umls-concept:C1418965 | lld:lifeskim |
| pubmed-article:11734061 | lifeskim:mentions | umls-concept:C0008562 | lld:lifeskim |
| pubmed-article:11734061 | lifeskim:mentions | umls-concept:C0205225 | lld:lifeskim |
| pubmed-article:11734061 | lifeskim:mentions | umls-concept:C0332453 | lld:lifeskim |
| pubmed-article:11734061 | pubmed:dateCreated | 2002-11-19 | lld:pubmed |
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| pubmed-article:11734061 | pubmed:abstractText | R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature trypsin activation within the pancreas. Disruption of this site by a missense mutation, R122H, was found to cause hereditary pancreatitis. In addition to a c.365G>A (CGC>CAC) single nucleotide substitution, a c.365 through 366GC>AT (CGC>CAT) gene conversion event in exon 3 of PRSS1 was also found to result in a R122H mutation. This imposes a serious concern on the genotyping of pancreatitis by a widely used polymerase chain reaction-restriction fragment length polymorphism assay, which could only detect the commonest c.365G>A variant. | lld:pubmed |
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| pubmed-article:11734061 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11734061 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11734061 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:11734061 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11734061 | pubmed:issn | 1471-2156 | lld:pubmed |
| pubmed-article:11734061 | pubmed:author | pubmed-author:FérecCC | lld:pubmed |
| pubmed-article:11734061 | pubmed:author | pubmed-author:ChenJ MJM | lld:pubmed |
| pubmed-article:11734061 | pubmed:author | pubmed-author:QuéréII | lld:pubmed |
| pubmed-article:11734061 | pubmed:author | pubmed-author:RaguénèsOO | lld:pubmed |
| pubmed-article:11734061 | pubmed:author | pubmed-author:AurouxJJ | lld:pubmed |
| pubmed-article:11734061 | pubmed:author | pubmed-author:Le MaréchalCC | lld:pubmed |
| pubmed-article:11734061 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:11734061 | pubmed:volume | 2 | lld:pubmed |
| pubmed-article:11734061 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11734061 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11734061 | pubmed:pagination | 19 | lld:pubmed |
| pubmed-article:11734061 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:11734061 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11734061 | pubmed:articleTitle | 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. | lld:pubmed |
| pubmed-article:11734061 | pubmed:affiliation | INSERM-EMI 0115, Génétique Moléculaire et Génétique Epidémiologique, Etablissement Français du Sang-Bretagne, Université de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, France. cedric.lemarechal@univ-brest.fr | lld:pubmed |
| pubmed-article:11734061 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11734061 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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