FRANKLIN DISEASE
\fɹˈaŋklɪn dɪzˈiːz], \fɹˈaŋklɪn dɪzˈiːz], \f_ɹ_ˈa_ŋ_k_l_ɪ_n d_ɪ_z_ˈiː_z]\
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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.
By DataStellar Co., Ltd
