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Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations

Autosomal dominant hereditary pancreatitis has been conclusively linked with cationic trypsinogen (PRSS1) mutations p.R122H and p.N29I, which can be found in ~90% of mutation-positive cases. To date, 35 additional rare or private PRSS1 variants have been identified in subjects with hereditary or spo...

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Autori principali: Szmola, Richárd, Sahin-Tóth, Miklós
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2930840/
https://ncbi.nlm.nih.gov/pubmed/20452997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.072751
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