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Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation

Hereditary chronic pancreatitis associated with a mutation in the serine protease inhibitor, Kazal Type-1 (SPINK-1 gene) is extremely rare. The SPINK1 mutation results in trypsinogen activation which predisposes to chronic pancreatitis predominately when combined with CFTR gene mutations. It present...

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Detalhes bibliográficos
Publicado no:Pan Afr Med J
Main Authors: Patel, Janaki, Madan, Arina, Gammon, Amanda, Sossenheimer, Michael, Samadder, Niloy Jewel
Formato: Artigo
Idioma:Inglês
Publicado em: The African Field Epidemiology Network 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5837166/
https://ncbi.nlm.nih.gov/pubmed/29515728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11604/pamj.2017.28.110.13854
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