A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non‐penetrance

BACKGROUND: The cationic trypsinogen (PRSS1) R122H mutation causes autosomal dominant hereditary pancreatitis (HP) with multiple attacks of acute pancreatitis, but the penetrance, frequency, and severity of attacks are highly variable. HP twins study suggests that modifier genes influence severity b...

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Detalhes bibliográficos
Main Authors: Khalid, A, Finkelstein, S, Thompson, B, Kelly, L, Hanck, C, Godfrey, T E, Whitcomb, D C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Pancreas
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1856140/
https://ncbi.nlm.nih.gov/pubmed/16354799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/gut.2005.067959
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