Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Congenital hyperinsulinism of infancy (CHI) is a rare disorder characterized by severe hypoglycemia due to inappropriate insulin secretion. The genetic causes of CHI have been found in genes regulating insulin secretion from pancreatic β-cells; recessive inactivating mutations in the ABCC8 and KCNJ1...

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Autores principales: Proverbio, Maria Carla, Mangano, Eleonora, Gessi, Alessandra, Bordoni, Roberta, Spinelli, Roberta, Asselta, Rosanna, Valin, Paola Sogno, Di Candia, Stefania, Zamproni, Ilaria, Diceglie, Cecilia, Mora, Stefano, Caruso-Nicoletti, Manuela, Salvatoni, Alessandro, De Bellis, Gianluca, Battaglia, Cristina
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3711910/
https://ncbi.nlm.nih.gov/pubmed/23869231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0068740
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