Literature DB >> 1149310

Serum esterases of Icelanders. I. A "silent" pseudocholinesterase gene in an Icelandic family.

A Arnason, O Jensson, S Gudmundsson.   

Abstract

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.

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Year:  1975        PMID： 1149310     DOI： 10.1111/j.1399-0004.1975.tb00349.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG).

Authors:  C P Nogueira; M C McGuire; C Graeser; C F Bartels; M Arpagaus; A F Van der Spek; H Lightstone; O Lockridge; B N La Du
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

2.  Absence of linkage between the serum cholinesterase (CHE1) and rhesus (RH) loci.

Authors:  S L Primo-Parmo; E A Chautard-Freire-Maia
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.

Authors:  S L Primo-Parmo; C F Bartels; B Wiersema; A F van der Spek; J W Innis; B N La Du
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025
  3 in total

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