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Heavy Chain Disease

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.

Year introduced: 1966(1964)

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Tree Number(s): C15.378.147.780.490, C15.604.515.435, C20.683.780.490

MeSH Unique ID: D006362

Entry Terms:

  • Heavy Chain Diseases
  • mu-Chain Disease
  • mu Chain Disease
  • mu-Chain Diseases
  • gamma-Chain Disease
  • gamma Chain Disease
  • gamma-Chain Diseases
  • Franklin Disease
  • Franklin's Disease
  • Franklins Disease

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