Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach

Guanylate cyclase 2C (GC‐C), encoded by the GUCY2C gene, is implicated in hereditary early onset chronic diarrhea. Several families with chronic diarrhea symptoms have been identified with autosomal dominant, gain‐of‐function mutations in GUCY2C. We have identified a Mennonite patient with a novel G...

Descripción completa

Detalles Bibliográficos
Autores principales: Wolfe, Rachel M., Mohsen, Al‐Walid, Walsh Vockley, Cate, Bertrand, Carol A., Nicholls, Robert D., Heiman, Paige, Seibold, Leah M., Vockley, Jerry, Ghaloul‐Gonzalez, Lina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251925/
https://www.ncbi.nlm.nih.gov/pubmed/33949097
http://dx.doi.org/10.1002/ajmg.a.62207

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251925/
https://www.ncbi.nlm.nih.gov/pubmed/33949097
http://dx.doi.org/10.1002/ajmg.a.62207

Ejemplares similares