Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton (Q36245391)

13 August 2017

Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton (English)

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13 August 2017

G C Fraizer

1

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13 August 2017

M Siewertsen

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2

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13 August 2017

T R Harrold

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3

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13 August 2017

D W Cox

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4

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13 August 2017

1 November 1989

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13 August 2017

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13 August 2017

83

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4

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13 August 2017

377-382

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https://scigraph.springernature.com/pub.10.1007/bf00291385

13 August 2017

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cites work

Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes)

1 reference

12 December 2020

Bgl II polymorphism for the alpha 1-antitrypsin-related gene on chromosome 14

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12 December 2020

Molecular structure and sequence homology of a gene related to alpha 1-antitrypsin in the human genome

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12 December 2020

Report of Nomenclature Meeting for alpha 1-antitrypsin, INSERM, Rouen/Bois-Guillaume-1978.

1 reference

12 December 2020

New variants of alpha 1-antitrypsin: comparison of Pi typing techniques

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12 December 2020

Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes

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12 December 2020

In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin

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12 December 2020

Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder

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12 December 2020

Structure and variation of human alpha 1-antitrypsin

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12 December 2020

Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.

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12 December 2020

Human plasma proteinase inhibitors

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12 December 2020

Molecular basis of alpha-1-antitrypsin deficiency

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12 December 2020

DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene

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12 December 2020

Deoxyribonucleic acid (DNA) polymorphism of the alpha 1-antitrypsin gene in chronic lung disease

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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

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12 December 2020

The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes

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12 December 2020

The electrophoretic α1-globulin pattern of serum in α1-antitrypsin deficiency. 1963.

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12 December 2020

PiMheerlen, alpha PiM allele resulting in very low alpha 1-antitrypsin serum levels

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12 December 2020

Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.

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12 December 2020

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

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12 December 2020

DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA

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12 December 2020

Cell-specific expression of a transfected human alpha 1-antitrypsin gene

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12 December 2020

A new deficient variant of alpha1-antitrypsin (MDUARTE). Inability to detect the heterozygous state by antitrypsin phenotyping

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12 December 2020

Rat alpha 1-antitrypsin, preliminary characterisation of the in vitro mRNA translation product

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12 December 2020

Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida

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12 December 2020

DNA polymorphisms of the human alpha 1 antitrypsin gene in normal subjects and in patients with pulmonary emphysema

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12 December 2020

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

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12 December 2020

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin

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12 December 2020

Aggregation of plasma Z type alpha 1-antitrypsin suggests basic defect for the deficiency

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12 December 2020

Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function

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12 December 2020

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

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12 December 2020

Immunofixation after electrofocusing: Improved method for specific detection of serum proteins with determination of isoelectric points I. Immunofixation print technique for detection of alpha-1-protease inhibitor

1 reference

12 December 2020

Complete sequence of the cDNA for human .alpha.1-antitrypsin and the gene for the S variant

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12 December 2020

Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene

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12 December 2020

A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen

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12 December 2020

Cirrhosis and malignant hepatoma in alpha 1-antitrypsin deficiency

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12 December 2020

The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin.

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12 December 2020

Comparison of alpha-1-antitrypsin levels and antineutrophil elastase capacity of blood and lung in a patient with the alpha-1-antitrypsin phenotype null-null before and during alpha-1-antitrypsin augmentation therapy

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12 December 2020

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

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12 December 2020

Does alpha-1-antitrypsin PI null phenotype exist?

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12 December 2020

Identifiers

DOI

10.1007/BF00291385

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13 August 2017

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