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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813687/ https://www.ncbi.nlm.nih.gov/pubmed/31571622 http://dx.doi.org/10.4103/jpgm.JPGM_166_19 |