Clinical utility gene card for: α-1-antitrypsin deficiency (Q28388141)

4

object named as

Danny Jonigk

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Florian Laenger

3

object named as

Florian Laenger

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Maurizio Luisetti

5

object named as

Maurizio Luisetti

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author name string

Ilaria Ferrarotti

European Journal of Human Genetics

2

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language of work or name

English

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publication date

May 2011

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published in

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volume

19

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issue

5

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cites work

Risk factors for symptom onset in PI*Z 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=3083625

Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles

20 March 2017

1 reference

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Laboratory testing of individuals with severe alpha1-antitrypsin deficiency in three European centres.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083625

Conformational pathology of the serpins: themes, variations, and therapeutic strategies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083625

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083625

Alpha1-antitrypsin deficiency--a model for conformational diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083625

Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083625

Young adults with alpha 1-antitrypsin deficiency identified neonatally: their health, knowledge about and adaptation to the high-risk condition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083625

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083625

Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.246

American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.246

Secondary outputs of alpha1-antitrypsin deficiency targeted detection programme

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.246

The natural history of liver disease in alpha 1-antitrypsin deficient children

21 January 2018

1 reference

12 December 2020

Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group

1 reference

12 December 2020

Effect of environmental and clinical factors on lung function and respiratory symptoms in adolescents with alpha1-antitrypsin deficiency

1 reference

12 December 2020

Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile)

1 reference

12 December 2020

Respiratory symptoms and lung function in 30-year-old individuals with alpha-1-antitrypsin deficiency

1 reference

12 December 2020

Alpha-1 antitrypsin Null mutations and severity of emphysema

1 reference

12 December 2020

Ethnic differences in alpha-1 antitrypsin deficiency in the United States of America

1 reference

12 December 2020