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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837166/ https://www.ncbi.nlm.nih.gov/pubmed/29515728 http://dx.doi.org/10.11604/pamj.2017.28.110.13854 |