Article
Serum esterases of Icelanders. I. A "silent" pseudocholinesterase gene in an Icelandic family.
Clinical genetics - 1 Jan 2000
Arnason A, Jensson O, Gudmundsson S
Abstract excerpt
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.
Topics
- Alleles
- Cholinesterases
- Consanguinity
- Female
- Genes
- Genetic Linkage
- Homozygote
- Humans
- Iceland
- Male
- Metabolism, Inborn Errors
- Pedigree
- Phenotype