Hb Baden | beta18(A15)Val->Met |
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CONTACT | Internal | ||
HEMATOLOGY | Unknown; the mutation resulting in this variant occurred on a chromosome with the beta+-thal mutation IVS-I-5 (G->C) | ||
ELECTROPHORESIS | Not observed | ||
CHROMATOGRAPHY | Hb X and Hb A separate incompletely by cation exchange HPLC; the betaX and betaA chains do not separate in reversed phase HPLC | ||
STRUCTURE STUDIES | Not done; structural analyses by DNA sequencing | ||
DNA ANALYSES | A GTG->ATG mutation at codon 18 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a mother and son from East Germany | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Divoky, V., Bissé, E., Wilson, J.B., Gu, L-H., Wieland, H., Heinrichs, I., Prior, J.F., and Huisman, T.H.J.: Biochim. Biophys. Acta, 1180:173, 1992 . |