Serum esterases of Icelanders. I. A "silent" pseudocholinesterase gene in an Icelandic family.
During an investigation of cousin marriages in Iceland, five brothers and sisters were found to be homozygous for the "silent" allele of plasma cholinesterase. Clinical information on two family members is presented and discussed, and the possibility of the presence of a "nearly silent" plasma esterase allele, in one of the family units investigated, is suggested.
D000483:Alleles; D002802:Cholinesterases / Q000097:blood* / Q000378:metabolism; D003241:Consanguinity; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D007055:Iceland; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
D002802:Cholinesterases