Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency (Q34294602)

1 August 2017

1 reference

title

Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency (English)

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1 August 2017

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Luisetti M

1

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PubMed ID

14760160

1 August 2017

Seersholm N

series ordinal

2

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PubMed ID

14760160

1 August 2017

language of work or name

English

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publication date

1 February 2004

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1 August 2017

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1 August 2017

59

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1 August 2017

164-169

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1 August 2017

2

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Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: A longitudinal study of the general population.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

A fast amplification-reverse hybridization assay kit to detect the most frequent deficient variants in the alpha-1-antitrypsin gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Alpha1-antitrypsin deficiency--a model for conformational diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Usefulness of a national registry of alpha-1-antitrypsin deficiency. The Spanish experience

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Cloning and sequence of cDNA coding for alpha 1-antitrypsin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Human plasma proteinase inhibitors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Molecular evolution of serpins: homologous structure of the human alpha 1-antichymotrypsin and alpha 1-antitrypsin genes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Distribution of alpha-1-antitrypsin (Pi) phenotypes in Denmark determined by separator isoelectric focusing in agarose gel.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Alpha-1-antitrypsin deficiency. High prevalence in the St. Louis area determined by direct population screening

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Report of the committee on the genetic constitution of chromosome 14.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Alpha 1-antitrypsin screening of 18-year-old men

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Pi phenotypes of alpha1-antitrypsin in Southern England: Identification of M subtypes and implications for genetic studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

alpha-1-antitrypsin (Pi) phenotypes in a Finnish population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Genetic Variants of Serum Alpha-1-Antitrypsin (Pi Types) in Bretons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Alpha1-antitrypsin deficiency: a report from the 2nd meeting of the Alpha One International Registry, Rapallo (Genoa, Italy), 2001.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Intermediate alpha 1-antitrypsin deficiency PiSZ: a risk factor for pulmonary emphysema?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1746939

Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone

28 October 2018

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z

1 reference

12 December 2020

Serum Pi Types in Some Lappish and Finnish Populations

1 reference

12 December 2020

Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups

1 reference

12 December 2020

Siblings of patients with severe chronic obstructive pulmonary disease have a significant risk of airflow obstruction

1 reference

12 December 2020

Serum Pi types in Norwegians

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Alpha 1-antitrypsin phenotypes in Northern Sweden

1 reference

12 December 2020

Distribution of the Pi, TfC, and Gc subtypes in Galicia (North West Spain)

1 reference

12 December 2020

Alpha-1-Antitrypsin (Pi) Subtypes in the Spanish Basque Provinces

1 reference

12 December 2020

Distribution of alpha-1-antitrypsin phenotypes in Sweden

1 reference

12 December 2020

Alpha 1 antitrypsin deficiency in two population groups in north Italy

1 reference

12 December 2020

Polymorphism of haptoglobin (HP), group specific component (GC) and alpha-1-antitrypsin (PI) in the resident population of the Basque Country (Spain)

1 reference

12 December 2020

Immunohistochemical and genetic characterization of the M Cagliari alpha-1-antitrypsin molecule (M-like alpha-1-antitrypsin deficiency)

1 reference

12 December 2020

10.1136/THORAX.2003.006494

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference

PubMed ID

14760160