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. 1976 Feb;13(1):38-42.
doi: 10.1136/jmg.13.1.38.

New allele at cholinesterase locus 1

P J Garry, A A Dietz, T Lubrano, P C Ford, K James, H M Rubinstein

New allele at cholinesterase locus 1

P J Garry et al. J Med Genet. 1976 Feb.

Abstract

A family (H-J pedigree) segregating for the A and F alleles at cholinesterase locus 1 is described. Apparent anomalous results led to the recognition of a new allele (E1j) also segregating in the family. The data are consistent with the hypothesis that the the E1j causes reduction of 'usual' (E1u) molecules by about 66%. Whether this is because of retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined.

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References

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    1. Biochem Med. 1973 Aug;8(1):160-5 - PubMed
    1. Clin Chem. 1973 Nov;19(11):1309-13 - PubMed
    1. J Clin Invest. 1970 Mar;49(3):479-86 - PubMed
    1. Clin Chem. 1972 Feb;18(2):105-9 - PubMed

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