Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large

A diverse range of loss-of-function variants in the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) has been identified in patients with chronic pancreatitis (CP). The haplotype harboring the SPINK1 c.101A>G (p.Asn34Ser or N34S) variant (rs17107315:T>C) is one of the most importa...

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Detalles Bibliográficos
Autores principales: Pu, Na, Masson, Emmanuelle, Cooper, David N., Génin, Emmanuelle, Férec, Claude, Chen, Jian-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Opinion
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8619230/
https://www.ncbi.nlm.nih.gov/pubmed/34828289
http://dx.doi.org/10.3390/genes12111683

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8619230/
https://www.ncbi.nlm.nih.gov/pubmed/34828289
http://dx.doi.org/10.3390/genes12111683

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