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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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| Glavni autori: | , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Diabetes Association
2012
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| Teme: | |
| Online pristup: | 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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