Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

Lignende værker

• Clinical utility gene card for: Multi-minicore disease
  af: Lillis, Suzanne, et al.
  Udgivet: (2012)
• Multi-minicore Disease
  af: Jungbluth, Heinz
  Udgivet: (2007)
• A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity
  af: Ghassemi, Farshid, et al.
  Udgivet: (2008)
• Clinical utility gene card for: Central core disease
  af: Lillis, Suzanne, et al.
  Udgivet: (2012)
• Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
  af: Zhou, Haiyan, et al.
  Udgivet: (2010)