The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

Ítems similars

• The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
  per: Steele, A, et al.
  Publicat: (2011)
• Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
  per: Beer, N, et al.
  Publicat: (2012)
• Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
  per: Thomson, K, et al.
  Publicat: (2003)
• Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
  per: Valentinova, L, et al.
  Publicat: (2011)
• Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
  per: Christesen, H, et al.
  Publicat: (2008)