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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apopto...
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2840338/ https://ncbi.nlm.nih.gov/pubmed/20133622 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0910533107 |
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