(Q34517185)

2 August 2017

title

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency (English)

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2 August 2017

Darren N Saunders

1

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author name string

Elizabeth A Tindall

2

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2 August 2017

Robert F Shearer

3

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2 August 2017

Jacquelyn Roberson

4

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2 August 2017

Amy Decker

5

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2 August 2017

Jean Amos Wilson

6

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2 August 2017

Vanessa M Hayes

7

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2 August 2017

language of work or name

English

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publication date

12 December 2012

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2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

12

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2 August 2017

page(s)

e51762

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

12 December 2012

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Folding mechanism of the metastable serpin α1-antitrypsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

The structural diversity in α1-antitrypsin misfolding

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Molecular basis of α1-antitrypsin deficiency revealed by the structure of a domain-swapped trimer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Protein misfolding and obstructive lung disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Clinical practice. Alpha1-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=3520848

alpha1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Issues in the diagnosis of 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=3520848

hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-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=3520848

Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Genetic diversity of the alpha-1-antitrypsin gene in Africans identified using a novel genotyping assay

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Distribution of alpha1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520848

Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient 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=3520848

Improvement of fragment and primer selection for mutation detection by denaturing gradient 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=3520848

10.1371/JOURNAL.PONE.0051762

7 July 2018

Identifiers

DOI

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2 August 2017

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2 August 2017

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