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Literature DB >> 3875547

Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg.

S Weidinger, W Jahn, F Cujnik, F Schwarzfischer.

Abstract

The phenotypes of the protease inhibitor (PI) alpha-1-antitrypsin have been analyzed by isoelectric focusing on polyacrylamide gels. With improved resolution by a modified procedure it was possible to demonstrate a fifth PI*M suballele. The bands of PI M5 are located between PI M1 and PI M3. In addition, a further deficiency allele similar to PI*Z was found in a female patient with obstructive pulmonary disease. This variant was provisionally named PI Z augsburg (PI Z aug). Family data confirm a simple codominant mode of inheritance for PI Z aug.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：
alpha 1-Antitrypsin

Year: 1985 PMID： 3875547 DOI： 10.1007/bf00295662

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

11 in total

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Journal: Acta Med Scand Suppl Date: 1965

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Authors: R C Talamo; C E Langley; C E Reed; S Makino
Journal: Science Date: 1973-07-06 Impact factor: 47.728

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Journal: J Lab Clin Med Date: 1969-06

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Authors: G Mancini; A O Carbonara; J F Heremans
Journal: Immunochemistry Date: 1965-09

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Authors: M K Fagerhol; D W Cox
Journal: Adv Hum Genet Date: 1981

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Authors: D W Cox; A M Johnson; M K Fagerhol
Journal: Hum Genet Date: 1980 Impact factor: 4.132

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

Authors: J A Kramps; J W Brouwers; F Maesen; J H Dijkman
Journal: Hum Genet Date: 1981 Impact factor: 4.132

8. Pi M4: an additional Pi M subtype.

Authors: J Constans; M Viau; C Gouaillard
Journal: Hum Genet Date: 1980 Impact factor: 4.132

9. Alpha1-antitrypsin: evidence for a fourth PiM allele. Distribution of the PiM subtypes in Southern Germany.

Authors: S Weidinger; H Cleve; W Patutschnick
Journal: Z Rechtsmed Date: 1982

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

Authors: J Lieberman; L Gaidulis; S D Klotz
Journal: Am Rev Respir Dis Date: 1976-01

10 in total

1. Transient aberrancy of alpha 1-antitrypsin glycoprotein microheterogeneity in Pseudomonas aeruginosa septicaemia.

Authors: K Heyne; S Weidinger
Journal: Infection Date: 1990 Nov-Dec Impact factor: 3.553

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

Authors: A Graham; K Hayes; S Weidinger; C R Newton; A F Markham; N A Kalsheker
Journal: Hum Genet Date: 1990-08 Impact factor: 4.132

3. The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

Authors: J P Faber; S Weidinger; H W Goedde; K Ole
Journal: Am J Hum Genet Date: 1989-07 Impact factor: 11.025

4. Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern.

Authors: M D Holmes; M L Brantly; D T Curiel; S Weidinger; R G Crystal
Journal: Am J Hum Genet Date: 1990-04 Impact factor: 11.025

Review 10. Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis.

Authors: Jennifer A Dickens; David A Lomas
Journal: Drug Des Devel Ther Date: 2011-08-17 Impact factor: 4.162