Defining genotype-phenotype correlations in children with congenital hyperinsulinism
Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI, with mutations in HNF4A being the most recent identified genetic aetiology. Recessive mutations in ABCC8/KCNJ11...
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University College London (University of London)
2010
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.587586 |