Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

Antzeko izenburuak

• The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
  nork: Steele, A, et al.
  Argitaratua: (2011)
• The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
  nork: Steele, A, et al.
  Argitaratua: (2011)
• Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
  nork: Osbak, K, et al.
  Argitaratua: (2009)
• Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
  nork: Valentinova, L, et al.
  Argitaratua: (2011)
• Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
  nork: Gloyn, A, et al.
  Argitaratua: (2008)