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

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

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1683584

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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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1683584

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27 September 2019

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phenotype

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C P Nogueira

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1

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1683584

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M C McGuire

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2

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1683584

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27 September 2019

C Graeser

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3

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1683584

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C F Bartels

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4

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1683584

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M Arpagaus

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5

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1683584

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A F Van der Spek

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6

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1683584

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H Lightstone

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7

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1683584

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O Lockridge

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8

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1683584

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B N La Du

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9

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1683584

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English

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1 May 1990

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1683584

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27 September 2019

published in

American Journal of Human Genetics

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1683584

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27 September 2019

volume

46

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1683584

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27 September 2019

issue

5

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1683584

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27 September 2019

page(s)

934-942

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1683584

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27 September 2019

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

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

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Suxamethonium in the absence of pseudocholinesterase

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

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The familial incidence of low pseudocholinesterase level

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12 December 2020

based on heuristic

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

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12 December 2020

based on heuristic

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

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12 December 2020

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

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12 December 2020

based on heuristic

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

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https://pubmed.ncbi.nlm.nih.gov/2339692

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12 December 2020

based on heuristic

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Properties of the trace enzyme in human serum cholinesterase deficiency

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12 December 2020

based on heuristic

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

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https://pubmed.ncbi.nlm.nih.gov/2339692

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12 December 2020

based on heuristic

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

1 reference

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https://pubmed.ncbi.nlm.nih.gov/2339692

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12 December 2020

based on heuristic

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Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies

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https://pubmed.ncbi.nlm.nih.gov/2339692

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary Deficiency of Pseudocholinesterase in Eskimos

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https://pubmed.ncbi.nlm.nih.gov/2339692

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12 December 2020

based on heuristic

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A note on suxamethonium sensitivity and serum cholinesterase variants

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/2339692

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frameshift mutagenesis by eucaryotic DNA polymerases in vitro

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/2339692

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/2339692

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2339692

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1683584

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Europe PubMed Central

PMC publication ID

1683584

reference URL

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

retrieved

27 September 2019

PubMed publication ID

2339692

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stated in

Europe PubMed Central

PMC publication ID

1683584

reference URL

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

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27 September 2019

 

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