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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Detalles Bibliográficos
Autores principales: Shemer, Ruth, Avnon Ziv, Carmit, Laiba, Efrat, Zhou, Qing, Gay, Joel, Tunovsky-Babaey, Sharona, Shyng, Show-Ling, Glaser, Benjamin, Zangen, David H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2012
Materias:
Genetics/Genomes/Proteomics/Metabolomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237658/
https://www.ncbi.nlm.nih.gov/pubmed/22106158
http://dx.doi.org/10.2337/db11-0984

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