A carregar...
Permanent neonatal diabetes due to a novel insulin signal peptide mutation
We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51-month-old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons A/S
2013
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3712474/ https://ncbi.nlm.nih.gov/pubmed/23350652 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pedi.12011 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|