Title : Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Pub. Date : 2013 Feb

PMID : 23275527






1 Functional Relationships(s)
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1 In mutation-positive diazoxide-responsive probands, 42% were GLUD1, 41% were dominant KATP mutations, and 16% were in rare genes (HADH, UCP2, HNF4A, and HNF1A). Diazoxide hydroxyacyl-CoA dehydrogenase Homo sapiens