GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had c...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Diabetes Res Clin Pract
Autores principales: Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6544496/
https://ncbi.nlm.nih.gov/pubmed/31063852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.diabres.2019.04.017
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares