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Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.

Morris M Muzyamba, Tabasum T Farzaneh, Phillip P Behe, Alison A Thomas, Henrik B T HB Christesen, Klaus K Brusgaard, Khalid K Hussain, and Andrew A Tinker

Clin Endocrinol (Oxf) 67(1):115-24 (2007) PMID 17466004

Congenital hyperinsulinism (CHI) is a cause of persistent and severe hypoglycaemia in infancy. Mutations in the genes ABCC8 and KCNJ11 encoding SUR1 and Kir6.2, respectively, are the commonest cause of CHI. We investigated whether the possession of two DNA variants leading to coding changes in a single allele of ABCC8 can affect the potential mechanism of disease pathogenesis.

DOI: 10.1111/j.1365-2265.2007.02847.x
Version: za2963e q8zae q8zb8 q8zc0 q8zda q8ze3 q8zfa q8zga

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