A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing

Maturity-onset diabetes of the young (MODY) is a rare form of non-autoimmune diabetes with an autosomal dominant inheritance. To date, 14 genes have been reported as genetic basis of MODY. GCK gene, encoding the glucokinase enzyme, was the first MODY gene to be identified. GCK heterozygous inactivat...

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Autores principales: Concolino, Paola, Tartaglione, Linda, De Paolis, Elisa, Carrozza, Cinzia, Urbani, Andrea, Minucci, Angelo, Pitocco, Dario, Santonocito, Concetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690203/
https://www.ncbi.nlm.nih.gov/pubmed/36421779
http://dx.doi.org/10.3390/genes13112104

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