Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism : Association with a Reduction to Homozygosity of a Mutation in ABCC8 or KCNJ11

Congenital hyperinsulinism (CHI), previously named persistent hyperinsulinemic hypoglycemia of infancy, is characterized by profound hypoglycemia because of excessive insulin secretion. CHI presents as two different morphological forms: a diffuse form with functional abnormality of islets throughout...

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Hlavní autoři: Fournet, Jean-Christophe, Mayaud, Christine, de Lonlay, Pascale, Gross-Morand, Marie-Sylvie, Verkarre, Virginie, Castanet, Mireille, Devillers, Martine, Rahier, Jacques, Brunelle, Francis, Robert, Jean-Jacques, Nihoul-Fékété, Claire, Saudubray, Jean-Marie, Junien, Claudine
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2001
Témata:
Regular Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1891997/
https://ncbi.nlm.nih.gov/pubmed/11395395
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