A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2

The article presents a variant of maturity onset diabetes of the young type 2, caused by a rare mutation in the GCK gene. Maturity onset diabetes of the young (MODY) is a hereditary form of diabetes with an autosomal dominant type of inheritance, an onset at a young age, and a primary defect in panc...

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Detalles Bibliográficos
Autores principales: Ivanoshchuk, D.E., Shakhtshneider, E.V., Ovsyannikova, A.K., Mikhailova, S.V., Rymar, O.D., Oblaukhova, V.I., Yurchenko, A.A., Voevoda, M.I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716520/
https://www.ncbi.nlm.nih.gov/pubmed/33659812
http://dx.doi.org/10.18699/VJ20.41-o

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