A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

समान संसाधन

• Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
  द्वारा: Ellard, S, और अन्य
  प्रकाशित: (2007)
• Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.
  द्वारा: Proks, P, और अन्य
  प्रकाशित: (2007)
• An ABCC8 nonsense mutation causing neonatal diabetes through altered transcript expression
  द्वारा: Flanagan, SE, और अन्य
  प्रकाशित: (2017)
• Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
  द्वारा: Shield, J, और अन्य
  प्रकाशित: (2008)
• Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.
  द्वारा: De Wet, H, और अन्य
  प्रकाशित: (2007)