(Q35246392)

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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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21 September 2019

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3257351%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

pulmonary emphysema

1 reference

based on heuristic

inferred from title

1 reference

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author name string

Satoh K

1

1 reference

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21 September 2019

Nukiwa T

2

1 reference

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21 September 2019

Brantly M

3

1 reference

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21 September 2019

Garver RI Jr

4

1 reference

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21 September 2019

Hofker M

5

1 reference

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21 September 2019

Courtney M

6

1 reference

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21 September 2019

Crystal RG

7

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21 September 2019

language of work or name

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publication date

1 January 1988

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21 September 2019

American Journal of Human Genetics

1 reference

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21 September 2019

42

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21 September 2019

77-83

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21 September 2019

1

1 reference

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21 September 2019

Structure and variation of human alpha 1-antitrypsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

High-level production of biologically active human alpha 1-antitrypsin in Escherichia coli.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Lambda replacement vectors carrying polylinker sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Chromosomal localization of the human alpha 1-antitrypsin gene (PI) to 14q31-32.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

The cellular defect in alpha 1-proteinase inhibitor (alpha 1-PI) deficiency is expressed in human monocytes and in Xenopus oocytes injected with human liver mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Expression of the alpha-1-antitrypsin gene in mononuclear phagocytes of normal and alpha-1-antitrypsin-deficient individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Complete absence of serum alpha-1-antitrypsin in conjunction with an apparently normal gene structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Smoking, lung function, and alpha 1-antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Further examples confirming the existence of Pi null (Pi-)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Natural History and Life Expectancy in Severe Alpha1-Antitrypsin Deficiency, Pi Z

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

Properties of Isolated Human alpha1-Antitrypsins of Pi Types M, S and Z

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

27 July 2018

The pUC plasmids, an M13mp7-derived system for insertion mutagenesis and sequencing with synthetic universal primers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

26 September 2018

Human plasma proteinase inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715304

26 September 2018

1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/3257351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unstable β-globin mRNA in mRNA-deficient β0 thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/3257351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro synthesis of M and Z forms of human alpha 1-antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/3257351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3257351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon

1 reference

https://pubmed.ncbi.nlm.nih.gov/3257351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta O-39 thalassemia gene: a premature termination codon causes beta-mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/3257351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3257351

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

https://pubmed.ncbi.nlm.nih.gov/3257351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3257351%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3257351%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

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