Association of a homozygous GCK missense mutation with mild diabetes

BACKGROUND: Homozygous inactivating GCK mutations have been repeatedly reported to cause severe hyperglycemia, presenting as permanent neonatal diabetes mellitus (PNDM). Conversely, only two cases of GCK homozygous mutations causing mild hyperglycemia have been so far described. We here report a nov...

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Detalles Bibliográficos
Autores principales: Marucci, Antonella, Biagini, Tommaso, Di Paola, Rosa, Menzaghi, Claudia, Fini, Grazia, Castellana, Stefano, Cardinale, Giuliana Marcella, Mazza, Tommaso, Trischitta, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625123/
https://www.ncbi.nlm.nih.gov/pubmed/31197960
http://dx.doi.org/10.1002/mgg3.728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625123/
https://www.ncbi.nlm.nih.gov/pubmed/31197960
http://dx.doi.org/10.1002/mgg3.728

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