OBSERVATIONS ON DOUBLE ALBUMIN: A GENETICALLY TRANSMITTED SERUM PROTEIN ANOMALY *†
Open Access
- 31 July 1959
- journal article
- research article
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 38 (8) , 1412-1420
- https://doi.org/10.1172/jci103917
Abstract
Double albumin was demonstrated on electrophoresis in 25 of 43 members of a family. The anomaly was observed in a heterozygous state, was transmitted as a codominant characteristic with complete penetrance, was apparently the result of a mutation of a gene responsible for the synthesis of normal serum albumin, but was not associated with disease. The anomalous fraction replaced 1/2 of the normal serum albumin and by immunochemical evidence was shown to be an albumin. Electro-phoretic studies at several pHs suggested that the anomalous albumin contained tyrosine, lysine or cysteine residues substituted for carboxyl residues in normal albumin.Keywords
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