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Case Reports
. 1978 Feb;15(1):27-9.
doi: 10.1136/jmg.15.1.27.

E1k, another quantitative variant at cholinesterase locus 1

H M Rubinstein, A A Dietz, T Lubrano
Case Reports

E1k, another quantitative variant at cholinesterase locus 1

H M Rubinstein et al. J Med Genet. 1978 Feb.

Abstract

Two families segregating for the atypical (E1a) allele at cholinesterase locus 1 are described. Unusual results for dibucaine inhibition led to the recognition of a new allele (E1k) also segregating in these families. The enzymatic and immunological data are consistent with the hypothesis that E1k causes reduction of 'usual' (E1u) molecules by about 33%. Whether the reduction of E1u caused by E1k is caused by retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined.

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References

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