(Q41942630)

14 October 2017

Real time PCR detection of the PI*Z and PI*S mutations associated with alpha-1 antitrypsin deficiency (English)

1 reference

alpha-1-antitrypsin deficiency

14 October 2017

1 reference

Claudine L Bartels

1

1 reference

14 October 2017

Angela L Marchetti

series ordinal

2

1 reference

14 October 2017

W Edward Highsmith

series ordinal

3

1 reference

14 October 2017

Gregory J Tsongalis

series ordinal

4

1 reference

14 October 2017

language of work or name

English

0 references

publication date

10 August 2009

1 reference

American Journal of Translational Research

14 October 2017

1 reference

14 October 2017

1

1 reference

14 October 2017

4

1 reference

14 October 2017

406-411

1 reference

Clinical practice. Alpha1-antitrypsin deficiency

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Alpha one antitrypsin deficiency: from gene to treatment

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Pathogenesis of chronic liver injury and hepatocellular carcinoma in alpha-1-antitrypsin deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

An overview of the serpin superfamily

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

5 June 2018

AAT as a diagnostic tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Leukocyte elastase: physiological functions and role in acute lung injury

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

The Pi system-inherited variants of serum alpha 1-antitrypsin

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

The mechanism of Z alpha 1-antitrypsin accumulation in the liver

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Z and S mutations of the alpha1-antitrypsin gene and the risk of chronic obstructive pulmonary disease

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780033

Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion

18 August 2018

1 reference

12 December 2020

Alpha-1 antitrypsin Null mutations and severity of emphysema

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting

1 reference

12 December 2020

Genes for immunoglobulin heavy chains and for α1-antitrypsin are localized to specific regions of chromosome 14q

1 reference

12 December 2020

Perceptions of genetic discrimination among at-risk relatives of colorectal cancer patients

1 reference

12 December 2020

Identifiers

1 reference

14 October 2017

PubMed publication ID

19956452

1 reference