A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen (Q69736142)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

alpha-1-antitrypsin deficiency

5 October 2019

main subject

1 reference

M H Hofker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

T Nukiwa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

H M van Paassen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

M Nelen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

J A Kramps

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

E C Klasen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

R R Frants

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

R G Crystal

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

publication date

1 February 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

page(s)

264-268

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2784123%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00279001

5 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Structure and variation of human alpha 1-antitrypsin

1 reference

12 December 2020

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

12 December 2020

Three different mutations in codon 61 of the human N-ras gene detected by synthetic oligonucleotide hybridization.

1 reference

12 December 2020

Double cos site vectors: simplified cosmid cloning.

1 reference

12 December 2020

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

1 reference

12 December 2020

Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase

1 reference

12 December 2020

PiMheerlen, alpha PiM allele resulting in very low alpha 1-antitrypsin serum levels

1 reference

12 December 2020

The human thyroglobulin gene contains two 15-17 kb introns near its 3'-end

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Establishment of cell lines from normal adult human blood leukocytes by exposure to Epstein-Barr virus and neutralization by human sera with Epstein-Barr virus antibody.

1 reference

12 December 2020

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

1 reference

12 December 2020

Plasmid screening at high colony density

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency and the flaccid lung syndrome. The heterozygote controversy

1 reference

12 December 2020

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

1 reference

12 December 2020

The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin.

1 reference

12 December 2020

Characterization of the M1(Ala213) type of alpha 1-antitrypsin, a newly recognized, common "normal" alpha 1-antitrypsin haplotype

1 reference

12 December 2020

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Does alpha-1-antitrypsin PI null phenotype exist?

1 reference

12 December 2020