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Evidence for mutation being the source of the abnormal gene for plasma cholinesterase
  1. R. T. Evans,
  2. P. J. Magill
  1. Biochemistry Department, Southmead Hospital, Bristol


    Results of cholinesterase, dibucaine and fluoride numbers, and scoline hydrolysis rates are presented in a family found to have normal, silent and abnormal genes for plasma cholinesterase. Five sibs, confirmed by red cell grouping and tissue typing, have been shown to possess a cholinesterase pattern which cannot be explained on the basis of accepted theories of inheritance. In view of this it is suggested that, in this family, a mutation has occurred from a normal or silent gene to an abnormal gene.

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