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choroba z ťažkých reťazcov

Subject h.	choroba z ťažkých reťazcov
Subject h.	Heavy Chain Disease
Entry terms	Franklinova choroba choroba z ťažkých gama-reťazcov choroba z gama-reťazcov choroba z ťažkých mí-reťazcov choroba z mí-reťazcov
English X references	Franklin Disease gamma-Chain Disease mu-Chain Disease
Scope note in English	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.
See also reference (FX) in Slovak	reťazce imunoglobulínov, ťažké
See also reference (FX) in English	Immunoglobulin Heavy Chains
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	(1) - MeSH descriptor
	(2) - CiBaMed
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