A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis

Introduction: Hereditary pancreatitis (HP) is a rare debilitating disease with incompletely understood etio-pathophysiology. The reduced penetrance of genes such as PRSS1 associated with hereditary pancreatitis indicates a role for novel inherited factors. Methods: We performed whole-exome sequencin...

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Detalles Bibliográficos
Autores principales: Shah, Idrees A., Prasad, Hari, Banerjee, Sanghita, Kurien, Reuben Thomas, Chowdhury, Sudipta Dhar, Visweswariah, Sandhya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9868559/
https://www.ncbi.nlm.nih.gov/pubmed/36699452
http://dx.doi.org/10.3389/fgene.2022.1058057

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9868559/
https://www.ncbi.nlm.nih.gov/pubmed/36699452
http://dx.doi.org/10.3389/fgene.2022.1058057

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