(Q33592438)

28 July 2017

title

Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity (English)

1 reference

alpha-1-antitrypsin deficiency

28 July 2017

main subject

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Bamforth FJ

1

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28 July 2017

Kalsheker NA

series ordinal

2

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28 July 2017

language of work or name

English

0 references

publication date

1 February 1988

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

25

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28 July 2017

issue

2

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28 July 2017

page(s)

83-87

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Structure and variation of human alpha 1-antitrypsin

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

Liver damage in a neonate with alpha-1-antitrypsin deficiency due to phenotype PiZ null (Z-).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

Four-year-old children with alpha 1-antitrypsin deficiency. Clinical follow-up and parental attitudes towards neonatal screening.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

The isolation of a clone for human alpha 1-antitrypsin and the detection of alpha 1-antitrypsin in mRNA from liver and leukocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

Effects of passive smoking on health of children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

DNA polymorphisms of the human alpha 1 antitrypsin gene in normal subjects and in patients with pulmonary emphysema

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

Detection of specific sequences among DNA fragments separated by gel electrophoresis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

Apparent total alpha1-antitrypsin deficiency: report of a case

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

The genetics of alpha1-antitrypsin: a family study in England and Scotland.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

Automated measurement of the elastase-inhibitory capacity of plasma with a centrifugal analyzer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015448

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

21 June 2018

1 reference

12 December 2020

Prospective study of children with alpha 1-antitrypsin deficiency: eight-year-old follow-up

1 reference

12 December 2020

Phenotyping alpha-1-antitrypsin (alpha 1-AT) variants by isoelectric focusing in agarose and immunoblotting

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes

1 reference

12 December 2020

Identifiers

PMC publication ID

1015448

1 reference

28 July 2017

1 reference