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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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Dades bibliogràfiques
Publicat a:J Diabetes Investig
Autors principals: Matsutani, Norihiko, Furuta, Hiroto, Matsuno, Shohei, Oku, Yoshimasa, Morita, Shuhei, Uraki, Shinsuke, Doi, Asako, Furuta, Machi, Iwakura, Hiroshi, Ariyasu, Hiroyuki, Nishi, Masahiro, Akamizu, Takashi
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Accés en línia: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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