Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

CONTEXT: Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9 genes. OBJECTIVE: Our objective was to correlate genotype with phenotype in 417 children with HI. METHODS: Mutation analysis was carried out for the ATP-sensitive potassium (KATP) channel genes (ABCC8 and KCNJ11...

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Bibliographische Detailangaben
Hauptverfasser: Snider, K. E., Becker, S., Boyajian, L., Shyng, S.-L., MacMullen, C., Hughes, N., Ganapathy, K., Bhatti, T., Stanley, C. A., Ganguly, A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2013
Schlagworte:
JCEM Online: Advances in Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565119/
https://ncbi.nlm.nih.gov/pubmed/23275527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-2169
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