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Permanent Neonatal Diabetes Caused by Creation of an Ectopic Splice Site within the INS Gene
BACKGROUND: The aim of this study was to characterize the genetic etiology in a patient who presented with permanent neonatal diabetes at 2 months of age. METHODOLOGY/PRINCIPAL FINDINGS: Regulatory elements and coding exons 2 and 3 of the INS gene were amplified and sequenced from genomic and comple...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Public Library of Science
2012
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3250427/ https://ncbi.nlm.nih.gov/pubmed/22235272 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0029205 |
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