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A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus
Heterozygous inactivating mutations in the glucokinase gene cause the mildest form of maturity-onset diabetes of the adolescents. However, homozygous or compound heterozygous mutations in the glucokinase gene are a rare cause of permanent neonatal diabetes mellitus. Herein, we present the case of a...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Kare Publishing
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750344/ https://www.ncbi.nlm.nih.gov/pubmed/33414663 http://dx.doi.org/10.14744/TurkPediatriArs.2019.05882 |