Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons (Q35198446)

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English	Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons	scientific article

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons (English)

1 reference

Europe PubMed Central

7 August 2017

alpha-1-antitrypsin deficiency

1 reference

based on heuristic

inferred from title

author name string

Takahashi H

1

1 reference

Europe PubMed Central

7 August 2017

Crystal RG

2

1 reference

Europe PubMed Central

7 August 2017

language of work or name

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publication date

1 September 1990

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Europe PubMed Central

7 August 2017

American Journal of Human Genetics

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Europe PubMed Central

7 August 2017

47

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Europe PubMed Central

7 August 2017

3

1 reference

Europe PubMed Central

7 August 2017

403-413

1 reference

Europe PubMed Central

7 August 2017

Chromosome preparations of leukocytes cultured from human peripheral blood

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13 July 2018

Structure and variation of human alpha 1-antitrypsin

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13 July 2018

The structure and evolution of the human beta-globin gene family

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13 July 2018

Human plasma proteinase inhibitors

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13 July 2018

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

1 reference

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13 July 2018

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

1 reference

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13 July 2018

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

1 reference

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13 July 2018

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

1 reference

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13 July 2018

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

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13 July 2018

Elastases and emphysema. Current assessment of the protease-antiprotease hypothesis

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13 July 2018

Improved resolution of PI (alpha 1-antitrypsin) phenotypes by a large-scale immobilized pH gradient

1 reference

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13 July 2018

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

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13 July 2018

Identification of deletions in the human low density lipoprotein receptor gene

1 reference

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13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

The human alpha-1-antitrypsin gene is efficiently expressed from two tissue-specific promotors in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

Molecular basis of 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=1683852

13 July 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

Molecular basis and prenatal diagnosis of beta-thalassemia

1 reference

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13 July 2018

Characterization of five partial deletions of the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 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=1683852

13 July 2018

Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine 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=1683852

13 July 2018

Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

Maternal duplication associated with gene deletion in sporadic hemophilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

Tissue-specific expression of the human alpha 1-antitrypsin gene is controlled by multiple cis-regulatory elements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

The alpha 1-antitrypsin gene and its deficiency states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683852

13 July 2018

Bacteriophage T7 DNA replication. An electron microscopic study of the growing point and the role of the T7 gene 4 protein in the formation of DNA fragments

1 reference

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13 July 2018

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

1 reference

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26 September 2018

A modified double antibody sandwich enzyme-linked immunosorbent assay for measurement of alpha-1-antitrypsin in biologic fluids

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

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/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional location of alpha 1-antichymotrypsin and alpha 1-antitrypsin genes on human chromosome 14

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

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/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the M1(Ala213) type of alpha 1-antitrypsin, a newly recognized, common "normal" alpha 1-antitrypsin haplotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pi M4: an additional Pi M subtype

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copy number of a human type I alpha 2 collagen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

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/1975477

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/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Species- and tissue-specific expression of human alpha 1-antitrypsin in transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

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

https://pubmed.ncbi.nlm.nih.gov/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the intracellular mechanism causing the alpha-1-antitrypsin Nullgranite falls deficiency state

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

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/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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