Article
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
Journal of pediatric endocrinology & metabolism : JPEM - 27 Nov 2017
Rozenkova Klara, Nessa Azizun, Obermannova Barbora, Elblova Lenka, Dusatkova Petra, Sumnik Zdenek, Lebl Jan, Hussain Khalid, Pruhova Stepanka
Abstract excerpt
BACKGROUND: Congenital hyperinsulinism (CHI) is frequently caused by mutations in one of the KATP channel subunits encoded by the genes ABCC8 and KCNJ11. The effect of simultaneous mutations in both of these genes on the pancreatic β-cell function is not known and patients with CHI carrying both ABCC8 and KCNJ11 mutations have not yet been reported. We questioned if a combination of heterozygous mutations in the...
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