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Origin of de Novo KCNJ11 Mutations and Risk of Neonatal Diabetes for Subsequent Siblings
CONTEXT: Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic β-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known. OBJECTIVE: Our o...
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| Publicado no: | J Clin Endocrinol Metab |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7611879/ https://ncbi.nlm.nih.gov/pubmed/17327377 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2006-2817 |
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