(Q33593417)

28 July 2017

title

Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus (English)

1 reference

28 July 2017

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Whitehouse DB

1

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28 July 2017

Abbott CM

2

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28 July 2017

Lovegrove JU

3

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28 July 2017

McIntosh I

4

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28 July 2017

McMahon CJ

5

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28 July 2017

Mieli-Vergani G

6

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28 July 2017

Mowat AP

7

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28 July 2017

Hopkinson DA

8

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28 July 2017

language of work or name

English

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publication date

1 December 1989

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

26

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28 July 2017

issue

12

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28 July 2017

page(s)

744-749

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Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis

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=1015753

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

Chromosomal localization of the human alpha 1-antitrypsin gene (PI) to 14q31-32.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

alpha 1-Antitrypsin: molecular pathology, leukocytes, and tissue damage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

Molecular basis of alpha-1-antitrypsin deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI 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=1015753

DNA haplotyping of PI Z and M alleles within the German population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

Reliable Classification of Six Pi M Subtypes by Separator Isoelectric Focusing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015753

The human alpha-1-antitrypsin-related sequence gene: isolation and investigation of its expression

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

Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency

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

α1-ANTTTRYPSIN-RELATED GENE (ATR) FOR PRENATAL DIAGNOSIS

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency and liver cirrhosis in adults. An analysis of 35 Swedish autopsied cases

1 reference

12 December 2020

Species- and tissue-specific expression of human alpha 1-antitrypsin in transgenic mice

1 reference

12 December 2020

The natural history of liver disease in alpha 1-antitrypsin deficient children

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.26.12.744

0 references

PMC publication ID

1015753

1 reference

28 July 2017

1 reference