(Q42144651)

17 October 2017

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

1 reference

17 October 2017

Cox DW

1

1 reference

17 October 2017

Billingsley GD

series ordinal

2

1 reference

17 October 2017

language of work or name

English

0 references

publication date

1 June 1989

1 reference

American Journal of Human Genetics

17 October 2017

1 reference

17 October 2017

44

1 reference

17 October 2017

6

1 reference

17 October 2017

844-854

1 reference

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

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Molecular basis of alpha-1-antitrypsin deficiency

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Detection of alpha 1-antitrypsin genotypes by analysis of amplified DNA sequences

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Detection of specific sequences among DNA fragments separated by gel electrophoresis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha-antitrypsin heterozygote controversy

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

The ultrastructure of hepatocytes in alpha-1-antitrypsin deficiency with the genotype Pi--

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Mass screening of newborn Swedish infants for alpha antitrypsin deficiency

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Antitrypsin phenotypes in St. Louis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

An unusual type of alpha1-antitrypsin deficiency in a child

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Alpha1-antitrypsin deficiency with M-like phenotype

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Occurrence of Alpha-1-antitrypsin Deficiency in 155 Patients with Alcoholic Liver Disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715659

Typing of genetic variants of alpha 1-antitrypsin by electrofocusing

17 August 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

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

Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies

1 reference

12 December 2020

Agarose gel electrophoresis

1 reference

12 December 2020

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

1 reference

12 December 2020

Does alpha-1-antitrypsin PI null phenotype exist?

1 reference

12 December 2020

Identifiers

1 reference

17 October 2017

PubMed publication ID

2786333

1 reference