(Q68583863)

English

Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu)

scientific article published on 01 October 1990

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Europe PubMed Central

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25 September 2019

Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu) (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2227940%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

alpha-1-antitrypsin deficiency

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author name string

A Graham

1

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Europe PubMed Central

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25 September 2019

N A Kalsheker

2

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25 September 2019

F J Bamforth

3

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25 September 2019

C R Newton

4

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25 September 2019

A F Markham

5

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25 September 2019

publication date

1 October 1990

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25 September 2019

1 reference

Europe PubMed Central

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25 September 2019

85

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25 September 2019

5

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25 September 2019

537-540

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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/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The serpins: evolution and adaptation in a family of protease inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products

1 reference

https://pubmed.ncbi.nlm.nih.gov/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and variation of human alpha 1-antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/2227940

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/2227940

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/2227940

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/2227940

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/2227940

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/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/2227940

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/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function

1 reference

https://pubmed.ncbi.nlm.nih.gov/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Typing of genetic variants of alpha 1-antitrypsin by electrofocusing

1 reference

https://pubmed.ncbi.nlm.nih.gov/2227940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00194233

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2227940%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2227940%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

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