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Article

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

Hormone research in paediatrics - 1 Jan 2013

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

Abstract excerpt

BACKGROUND/AIMS: In a family with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, 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 (24-hour fasting, oral glucose and protein tolerance tests). To identify the disease locus and potential...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23859901
DOI: 10.1159/000351943
PMCID: PMC3876732

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DNA2

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