Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

Christophe Girard (1)

1 Department of Physiology, Anatomy and Genetics, University of Oxford

Domaines: Endocrinologie et métabolisme

Christophe Girard. Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects. American Journal of Human Genetics, 2007, 81 (2), pp.375-382. ⟨10.1086/519174⟩. ⟨hal-03016441⟩