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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主要な著者: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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フォーマット: | Artigo |
言語: | 英語 |
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2014
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オンライン・アクセス: | https://doi.org/10.1093/hmg/ddu360 https://academic.oup.com/hmg/article-pdf/23/24/6432/13907126/ddu360.pdf |
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