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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...
Autores principales: | Pace, Nikolai Paul, Rizzo, Christopher, Abela, Alexia, Gruppetta, Mark, Fava, Stephen, Felice, Alex, Vassallo, Josanne |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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Materias: | |
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 |
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