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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Bibliografiska uppgifter
I publikationen:J Diabetes Investig
Huvudupphovsmän: Matsutani, Norihiko, Furuta, Hiroto, Matsuno, Shohei, Oku, Yoshimasa, Morita, Shuhei, Uraki, Shinsuke, Doi, Asako, Furuta, Machi, Iwakura, Hiroshi, Ariyasu, Hiroyuki, Nishi, Masahiro, Akamizu, Takashi
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2019
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Articles
Länkar: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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