(Q35200981)

7 August 2017

title

Complete absence of serum alpha-1-antitrypsin in conjunction with an apparently normal gene structure (English)

1 reference

7 August 2017

H Muensch

1

1 reference

7 August 2017

L Gaidulis

2

1 reference

7 August 2017

F Kueppers

3

1 reference

7 August 2017

S Y So

4

1 reference

7 August 2017

G Escano

5

1 reference

7 August 2017

V J Kidd

6

1 reference

7 August 2017

S L Woo

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 June 1986

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

38

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7 August 2017

issue

6

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7 August 2017

page(s)

898-907

1 reference

THE PREPARATION OF I-131-LABELLED HUMAN GROWTH HORMONE OF HIGH SPECIFIC RADIOACTIVITY

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

Report of Nomenclature Meeting for alpha 1-antitrypsin, INSERM, Rouen/Bois-Guillaume-1978.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

Immunochemical quantitation of antigens by single radial immunodiffusion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

Detection of specific sequences among DNA fragments separated by gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

Further examples confirming the existence of Pi null (Pi-)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

Molecular abnormality of human alpha1-antitrypsin variant (Pi-ZZ) associated with plasma activity deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

The ultrastructure of hepatocytes in alpha-1-antitrypsin deficiency with the genotype Pi--

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684849

1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin

26 September 2018

1 reference

12 December 2020

Additional Evidence for a Deleted Gene for Serum Alpha-1-Antitrypsin

1 reference

12 December 2020

Letter: Alpha1-antitrypsin deficiency: PiO

1 reference

12 December 2020

Letter: Alpha 1-antitrypsin null gene (pi-)

1 reference

12 December 2020

Alpha1-antitrypsin deficiency. Pi genotype ZO, SO and MO

1 reference

12 December 2020

Intermediate Alpha1-Antitrypsin Deficiency Resulting from a Null Gene (M– Phenotype)

1 reference

12 December 2020

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

1 reference

12 December 2020

Optimizing reference values for the measurement of alpha 1-antitrypsin in serum: comparison of three methods

1 reference

12 December 2020

The preparation and properties of two new chromogenic substrates of trypsin

1 reference

12 December 2020

Identifiers

PMC publication ID

1684849

1 reference

7 August 2017

1 reference