Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family

The diagnosis of maturity onset diabetes of the young (MODY) is a challenging process in view of the extensive clinical and genetic heterogeneity of the disease. Mutations in the gene encoding hepatocyte nuclear factor 1α (HNF1A) are responsible for most forms of monogenic diabetes in Northern Europ...

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Detalles Bibliográficos
Autores principales: Pace, Nikolai Paul, Rizzo, Christopher, Abela, Alexia, Gruppetta, Mark, Fava, Stephen, Felice, Alex, Vassallo, Josanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383084/
https://www.ncbi.nlm.nih.gov/pubmed/30814848
http://dx.doi.org/10.1177/1179547619831034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383084/
https://www.ncbi.nlm.nih.gov/pubmed/30814848
http://dx.doi.org/10.1177/1179547619831034

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