(Q34521234)

2 August 2017

Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes (English)

1 reference

2 August 2017

Nukiwa T

1

1 reference

2 August 2017

Brantly M

2

1 reference

2 August 2017

Garver R

3

1 reference

2 August 2017

Paul L

4

1 reference

2 August 2017

Courtney M

5

1 reference

2 August 2017

LeCocq JP

6

1 reference

2 August 2017

Crystal RG

7

1 reference

2 August 2017

language of work or name

English

0 references

publication date

1 February 1986

1 reference

Journal of Clinical Investigation

2 August 2017

1 reference

2 August 2017

77

1 reference

2 August 2017

2

1 reference

2 August 2017

528-537

1 reference

Oligonucleotide directed mutagenesis of the human beta-globin gene: a general method for producing specific point mutations in cloned DNA.

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Structure and variation of human alpha 1-antitrypsin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Assignment of the alpha 1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Synthesis and use of synthetic oligonucleotides

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Human plasma proteinase inhibitors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Population genetic studies of serum protein polymorphisms in four Spanish populations. II.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Expression of the alpha 1-proteinase inhibitor gene in human monocytes and macrophages

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Amino-acid substitutions at codon 13 of the N-ras oncogene in human acute myeloid leukaemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Discrimination among the human beta A, beta S, and beta C-globin genes using allele-specific oligonucleotide hybridization probes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Detection of specific sequences among DNA fragments separated by gel electrophoresis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Cirrhosis associated with partial deficiency of alpha-1-antitrypsin: A clinical and autopsy study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Molecular abnormality of human alpha1-antitrypsin variant (Pi-ZZ) associated with plasma activity deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Antitrypsin phenotypes in St. Louis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

alpha1-antitrypsin deficiency (first of two parts).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Alpha1-antitrypsin: further genetic heterogeneity revealed by isoelectric focusing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Adult Liver Disease in SZ Phenotype Alpha-1-Antitrypsin Deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Molecular abnormality of PI S variant of human alpha1-antitrypsin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Relation of Protease Inhibitor Phenotypes to Obstructive Lung Diseases in a Community

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Prevalence of of alpha 1-antitrypsin Pi types among newborn infants of different ethnic backgrounds

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Mathematical model for studying genetic variation in terms of restriction endonucleases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Alpha1-antitrypsin deficiency with cirrhosis associated with the protease inhibitor phenotype SZ

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Separator isoelectric focusing for identification of α-1-antitrypsin (Pi M) subtypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Studies in alpha 1-antitrypsin deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423375

Evaluation of the protease-antiprotease theory of human destructive lung disease

27 October 2018

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British Thoracic Association

1 reference

12 December 2020

Synthesis of alpha 1-antitrypsin in rat-liver hepatocytes and in a cell-free system

1 reference

12 December 2020

Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin

1 reference

12 December 2020

Alpha 1 antitrypsin deficiency: clinical and physiological features in heterozygotes of Pi type SZ. A survey by the British Thoracic Association

1 reference

12 December 2020

Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene

1 reference

12 December 2020

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

12 December 2020

Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

1 reference

12 December 2020

Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects

1 reference

12 December 2020

Serum Pi types in Norwegians

1 reference

12 December 2020

Serum Pi types in patients with pulmonary diseases

1 reference

12 December 2020

Cirrhosis Associated with Partial Deficiency of Alpha-1 Antitrypsin in an Adult

1 reference

12 December 2020

Liver Disease in Alpha1-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

1 reference

12 December 2020

alpha-1-antitrypsin deficiency in liver disease: the extent of the problem

1 reference

12 December 2020

Genetic variants of serum alpha1-antitrypsin (Pi types) in Portuguese

1 reference

12 December 2020

Lung function studies in asymptomatic individuals with moderately (Pi SZ) and severely (Pi Z) reduced levels of alpha1-antitrypsin

1 reference

12 December 2020

Distribution of alpha 1-antitrypsin variants in a US white population

1 reference

12 December 2020

PRENATAL DIAGNOSIS OF BETA-THALASSAEMIA WITH THE SYNTHETIC-OLIGOMER TECHNIQUE

1 reference

12 December 2020

A physical map of the DNA regions flanking the rabbit beta-globin gene

1 reference

12 December 2020

Pi M4: an additional Pi M subtype

1 reference

12 December 2020

A survey of alpha 1-antitrypsin deficiency by the British Thoracic Association

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI112333

1 reference

2 August 2017

1 reference

2 August 2017

1 reference