Hb Rambam | beta69(E13)Gly->Asp |
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ALSO KNOWN AS | J-Cambridge | ||
CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | ryptic digestion; separation of peptides by fingerprinting; chymotryptic digestion; amino acid analysis; leucine amino peptidase | ||
DNA ANALYSES | Not reported; presumed mutation GGT->GAT at codon 69 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a Bedouin family from Israel and an English family | ||
OTHER INFORMATION | Quantity in the heterozygote not reported |
REFERENCES | |||
1. | Salomon, H., Tatarski, I., Dance, N., Huehns, E.R., and Shooter, E.M.: Israel J. Med. Sci., 1:836, 1965. | ||
2. | Sick, K., Beale, D., Irvine, D., Lehmann, H., Goodall, P.T., and MacDougall, S.: Biochim. Biophys. Acta, 140:231, 1967. |