Heterogeneity of the Silent Phenotype of Human Butyrylcholinesterase - Identification of Eight New Mutations

Autor: S. L. Primo-Parmo, Abraham F. L. Van Der Spek, Harold Lightstone, Bert N. La Du, Cynthia F. Bartels
Rok vydání: 1992
Předmět:
Zdroj: Multidisciplinary Approaches to Cholinesterase Functions ISBN: 9781461363286
DOI: 10.1007/978-1-4615-3046-6_8
Popis: The silent phenotype of human butyrylcholinesterase (BChE; E.C. 3.1.1.8) is characterized by the absence or very low levels of enzyme activity. Heterogeneity of this phenotype was recognized soon after the first apparently homozygotes were identified (Goedde and Altland, 1968).
Databáze: OpenAIRE