Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

Lignende værker

• Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
  af: Setoodeh, Aria, et al.
  Udgivet: (2013)
• Metreleptin and Metformin Use in an Infant With Congenital Generalized Lipodystrophy Secondary to AGPAT2 Mutation
  af: Schweisberger, Cintya, et al.
  Udgivet: (2021)
• Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation
  af: Hussain, Suhaimi, et al.
  Udgivet: (2015)
• Molecular Mechanisms of Hepatic Steatosis and Insulin Resistance in the AGPAT2 Deficient Mouse Model of Congenital Generalized Lipodystrophy
  af: Cortés, Víctor A., et al.
  Udgivet: (2009)
• Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications
  af: Montenegro Junior, Renan Magalhães, et al.
  Udgivet: (2020)