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Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
We report a 24-year-old female with early-onset and persistent mild fasting hyperglycemia due to glucokinase-maturity-onset diabetes of the young (GCK-MODY). A c.505A>G (p. Lys169Glu) missense mutation of the GCK gene was identified. In silico analysis indicated that the mutation affected a conse...
Shranjeno v:
| izdano v: | J Postgrad Med |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer - Medknow
2019
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6813687/ https://ncbi.nlm.nih.gov/pubmed/31571622 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpgm.JPGM_166_19 |
| Oznake: |
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