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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Detalhes bibliográficos
Publicado no:J Diabetes Investig
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7078087/
https://ncbi.nlm.nih.gov/pubmed/31479591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jdi.13138
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