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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Detalles Bibliográficos
Autores principales: Garin, Intza, Perez de Nanclares, Guiomar, Gastaldo, Elena, Harries, Lorna W., Rubio-Cabezas, Oscar, Castaño, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250427/
https://www.ncbi.nlm.nih.gov/pubmed/22235272
http://dx.doi.org/10.1371/journal.pone.0029205

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