Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q

BACKGROUND/AIMS: In a family with congenital hyperinsulinism (HI), first described in the 1950s by MacQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI. METHODS: We surveyed 25 affected individuals, 7 of whom participated in tests of insulin dysregulation (...

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Autores principales: Pinney, Sara E., Ganapathy, Karthik, Bradfield, Jonathan, Stokes, David, Sasson, Ariella, Mackiewicz, Katarzyna, Boodhansingh, Kara, Hughes, Nkecha, Becker, Susan, Givler, Stephanie, Macmullen, Courtney, Monos, Dimitrios, Ganguly, Arupa, Hakonarson, Hakon, Stanley, Charles A.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3876732/
https://ncbi.nlm.nih.gov/pubmed/23859901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000351943
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