Case Reports
doi: 10.1136/jmg.15.1.27.
E1k, another quantitative variant at cholinesterase locus 1
- PMID: 416211
- PMCID: PMC1012819
- DOI: 10.1136/jmg.15.1.27
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Case Reports
E1k, another quantitative variant at cholinesterase locus 1
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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