Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing

Activating mutations in the ABCC8 gene cause diabetes and inactivating mutations usually cause hyperinsulinemic hypoglycemia in infancy. Patients with hypoglycemia in infancy due to a heterozygous inactivating mutation have been reported to occasionally progress to diabetes later in life. We explore...

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Detalles Bibliográficos
Autores principales: Matsutani, Norihiko, Furuta, Hiroto, Matsuno, Shohei, Oku, Yoshimasa, Morita, Shuhei, Uraki, Shinsuke, Doi, Asako, Furuta, Machi, Iwakura, Hiroshi, Ariyasu, Hiroyuki, Nishi, Masahiro, Akamizu, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078087/
https://www.ncbi.nlm.nih.gov/pubmed/31479591
http://dx.doi.org/10.1111/jdi.13138

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078087/
https://www.ncbi.nlm.nih.gov/pubmed/31479591
http://dx.doi.org/10.1111/jdi.13138

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