Franklins Disease

《英文msh詞典》Franklins Disease
[入口詞] Franklins Disease
[主題詞] Heavy Chain Disease
[英文釋義] 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.