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notation
  • C15.378.147.780.490
  • C15.604.515.435
  • C20.683.780.490
alternative label
  • Maladie des chaînes lourdes
  • gamma-Chain Diseases
  • mu-Chain Diseases
  • Franklin's Disease
  • Heavy Chain Disease
  • Heavy Chain Diseases
  • Maladie des chaines lourdes gamma
  • Maladie des chaines lourdes mu
  • Maladie des chaînes lourdes gamma
  • Maladie des chaînes lourdes mu
  • gamma Chain Disease
  • mu-Chain Disease
  • Franklin Disease
  • Franklins Disease
  • Maladie de Franklin
  • gamma-Chain Disease
  • mu Chain Disease
preferred label
  • Maladie des chaines lourdes
is in scheme
note
  • A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes
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