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SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus
ABCC8 encodes the SUR-1 subunit of the ATP-sensitive potassium (K-ATP) channel on beta cells. Mutations in this gene are associated with K-ATP channel gain of function (diabetes mellitus) and loss of function (hyperinsulinism). We describe a family with a heterozygous variant of uncertain significan...
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| Publicat a: | J Endocr Soc |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Endocrine Society
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6552806/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-270 |
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