Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys) (Q69417294)

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scientific article published on 01 December 1989

Language	Label	Description	Also known as
English	Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys)	scientific article published on 01 December 1989

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scholarly article

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1 October 2019

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

1 reference

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1 October 2019

alpha-1-antitrypsin deficiency

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author name string

A Graham

1

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1 October 2019

N A Kalsheker

2

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1 October 2019

C R Newton

3

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1 October 2019

F J Bamforth

4

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1 October 2019

S J Powell

5

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1 October 2019

A F Markham

6

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1 October 2019

publication date

1 December 1989

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1 October 2019

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1 October 2019

84

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1

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55-58

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1 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00210671

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2606478

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2606478

12 December 2020

based on heuristic

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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/2606478

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2606478

12 December 2020

based on heuristic

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Structure and variation of human alpha 1-antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/2606478

12 December 2020

based on heuristic

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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/2606478

12 December 2020

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Highly polymorphic minisatellite sequences: allele frequencies and mutation rates for five locus-specific probes in a Caucasian population

1 reference

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Alpha 1 antitrypsin deficiency due to MMaltonZ phenotype: case report and family study

1 reference

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12 December 2020

based on heuristic

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

1 reference

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Leukocyte recruitment to airways by cigarette smoke and particle phase in contrast to cytotoxicity of vapor

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

1 reference

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

1 reference

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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

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

1 reference

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Effects of passive smoking on health of children

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Study of familial alpha-1-proteinase inhibitor deficiency including a rare proteinase inhibitor phenotype (IZ). I. Alpha-1-phenotyping and clinical investigations

1 reference

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