Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG) (Q24677160)

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27 September 2019

title

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

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27 September 2019

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C P Nogueira

1

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27 September 2019

M C McGuire

2

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27 September 2019

C Graeser

3

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27 September 2019

C F Bartels

4

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27 September 2019

M Arpagaus

5

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27 September 2019

A F Van der Spek

6

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27 September 2019

H Lightstone

7

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27 September 2019

O Lockridge

8

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27 September 2019

B N La Du

9

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27 September 2019

language of work or name

English

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publication date

1 May 1990

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American Journal of Human Genetics

27 September 2019

published in

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27 September 2019

volume

46

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27 September 2019

page(s)

934-942

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27 September 2019

issue

5

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Brain cDNA clone for human cholinesterase

27 September 2019

cites work

1 reference

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Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

DNA sequencing with chain-terminating inhibitors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

7 April 2017

1 reference

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Structure of the gene for human butyrylcholinesterase. Evidence for a single copy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Comparison of atypical and usual human serum cholinesterase. Purification, number of active sites, substrate affinity, and turnover number

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

28 September 2017

1 reference

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Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes

28 September 2017

1 reference

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Evidence for mutation being the source of the abnormal gene for plasma cholinesterase

28 September 2017

1 reference

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Molecular basis and prenatal diagnosis of beta-thalassemia

28 September 2017

1 reference

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De novo amplification within a "silent" human cholinesterase gene in a family subjected to prolonged exposure to organophosphorous insecticides

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Molecular basis for congenital deficiency of alpha 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

A third type of serum cholinesterase deficiency in Eskimos

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli

28 September 2017

1 reference

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Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation

28 September 2017

1 reference

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Genetics of esterases in man

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Evidence for different "silent genes" in the human serum pseudocholinesterase polymorphism.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Further Evidence on the Heterogeneity of ‘Silent’ Serum Cholinesterase Variants

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Serum esterases of Icelanders 1. A “silent” pseudocholinesterase gene in an icelandic family

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

High incidence of the silent allele at cholinesterase locus I in Vysyas of Andhra Pradesh (S. India)

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Further variation of the “silent” cholinesterase gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

A ‘Silent’ Pseudocholinesterase Gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

The pseudocholinesterase variants. Esterase levels and dibucaine numbers in families selected through suxamethonium sensitive individuals

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

THE "SILENT" GENE FOR SERUM CHOLINESTERASE.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683584

Suxamethonium in the absence of pseudocholinesterase

28 November 2018

1 reference

12 December 2020

A comparison of optical and manometric methods for the assay of human serum cholinesterase

1 reference

12 December 2020

The familial incidence of low pseudocholinesterase level

1 reference

12 December 2020

A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers

1 reference

12 December 2020

On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers

1 reference

12 December 2020

Differential Inhibition of Human Serum Cholinesterase with Fluoride: Recognition of Two New Phenotypes

1 reference

12 December 2020

On the problem of a “silent gene” in pseudocholinesterase polymorphism

1 reference

12 December 2020

Properties of the trace enzyme in human serum cholinesterase deficiency

1 reference

12 December 2020

Molecular Basis of a Mutational Hot Spot in the Lysozyme Gene of Bacteriophage T4

1 reference

12 December 2020

A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA

1 reference

12 December 2020

Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies

1 reference

12 December 2020

Hereditary Deficiency of Pseudocholinesterase in Eskimos

1 reference

12 December 2020

A note on suxamethonium sensitivity and serum cholinesterase variants

1 reference

12 December 2020

Frameshift mutagenesis by eucaryotic DNA polymerases in vitro

1 reference

12 December 2020

alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon

1 reference

12 December 2020

A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2339692%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

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