Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

Eitemau Tebyg

• Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism
  gan: Saint-Martin, Cécile, et al.
  Cyhoeddwyd: (2014)
• Congenital hyperinsulinism: current trends in diagnosis and therapy
  gan: Arnoux, Jean-Baptiste, et al.
  Cyhoeddwyd: (2011)
• Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations
  gan: Faletra, Flavio, et al.
  Cyhoeddwyd: (2012)
• Relative Expression of a Dominant Mutated ABCC8 Allele Determines the Clinical Manifestation of Congenital Hyperinsulinism
  gan: Shemer, Ruth, et al.
  Cyhoeddwyd: (2012)
• Congenital Hyperinsulinism–Associated ABCC8 Mutations That Cause Defective Trafficking of ATP-Sensitive K(+) Channels: Identification and Rescue
  gan: Yan, Fei-Fei, et al.
  Cyhoeddwyd: (2007)