Cargando…

A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13

Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes. We report a pair of father and son diagnosed as MODY13 with a new mutation c.685G>A:p.E229K in the inwardly rectifying subfamily J, member 11 (KCNJ11) gene. CASE PRESENTATION: A pair of father and son was exa...

Descripción completa

Detalles Bibliográficos
Autores principales: Song, Xinjie, Cao, Yonghong, Ye, Jun, Dai, Wu, Zhang, Suwan, Ye, Shuai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524910/
https://www.ncbi.nlm.nih.gov/pubmed/36181023
http://dx.doi.org/10.1097/MD.0000000000030668