Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Geahča maid

• Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
  Dahkki: Nesbit, M, et al.
  Almmustuhtton: (2013)
• Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations
  Dahkki: Howles, S, et al.
  Almmustuhtton: (2016)
• A G-protein subunit-α11 loss-of-function mutation, Thr54Met, causes familial hypocalciuric hypercalcemia type 2 (FHH2)
  Dahkki: Gorvin, C, et al.
  Almmustuhtton: (2016)
• Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss‐of‐function Gα11 mutation
  Dahkki: Gorvin, C, et al.
  Almmustuhtton: (2017)
• Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (AP2S1) Gene
  Dahkki: Graham, U, et al.
  Almmustuhtton: (2013)