Relative Expression of a Dominant Mutated ABCC8 Allele Determines the Clinical Manifestation of Congenital Hyperinsulinism

Congenital hyperinsulinism (CHI) is most commonly caused by mutations in the β-cell ATP-sensitive K(+) (K(ATP)) channel genes. Severe CHI was diagnosed in a 1-day-old girl; the mother’s cousin and sister had a similar phenotype. ABCC8 gene sequencing (leukocyte DNA) revealed a heterozygous, exon 37,...

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Détails bibliographiques
Auteurs principaux: Shemer, Ruth, Avnon Ziv, Carmit, Laiba, Efrat, Zhou, Qing, Gay, Joel, Tunovsky-Babaey, Sharona, Shyng, Show-Ling, Glaser, Benjamin, Zangen, David H.
Format: Artigo
Langue:Inglês
Publié: American Diabetes Association 2012
Sujets:
Genetics/Genomes/Proteomics/Metabolomics
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3237658/
https://ncbi.nlm.nih.gov/pubmed/22106158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db11-0984
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