(Q68561999)

English

Highly variable clinical course in severe alpha 1-antitrypsin deficiency--use of polymerase chain reaction for the detection of rare deficiency alleles

scientific article published on 01 September 1990

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2214609%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

Highly variable clinical course in severe alpha 1-antitrypsin deficiency--use of polymerase chain reaction for the detection of rare deficiency alleles (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2214609%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

author name string

W Poller

1

1 reference

Europe PubMed Central

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25 September 2019

J P Faber

2

1 reference

Europe PubMed Central

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25 September 2019

K Olek

3

1 reference

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25 September 2019

publication date

1 September 1990

1 reference

Europe PubMed Central

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25 September 2019

Klinische Wochenschrift

1 reference

Europe PubMed Central

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25 September 2019

68

1 reference

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25 September 2019

17

1 reference

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25 September 2019

857-863

1 reference

Europe PubMed Central

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25 September 2019

Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in alpha-1-antitrypsin phenotypes associated with penicillamine therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of an acute phase response or pregnancy on plasma alpha-1-antitrypsin concentrations in persons with various S and Z phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Smoking, lung function, and alpha 1-antitrypsin deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA polymorphisms of the alpha 1-antitrypsin gene region in patients with chronic obstructive pulmonary disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new deficient variant of alpha1-antitrypsin (MDUARTE). Inability to detect the heterozygous state by antitrypsin phenotyping

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of alpha-1-antitrypsin levels and antineutrophil elastase capacity of blood and lung in a patient with the alpha-1-antitrypsin phenotype null-null before and during alpha-1-antitrypsin augmentation therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2214609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01662782

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2214609%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2214609%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

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