Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal...
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Váldodahkkit: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Materiálatiipa: | Artigo |
Giella: | eaŋgalasgiella |
Almmustuhtton: |
2014
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Liŋkkat: | https://doi.org/10.1093/hmg/ddu360 https://academic.oup.com/hmg/article-pdf/23/24/6432/13907126/ddu360.pdf |
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