Literature DB >> 2787118

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

J P Faber, S Weidinger, H W Goedde, K Ole.   

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Year:  1989        PMID： 2787118      PMCID： PMC1683384     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  4 in total

1.  The Pi phenotype MP. Discovery of a ninth allele belonging to the system of inherited variants of serum alpha 1 antitrypsin.

Authors:  M K Fagerhol; H E Hauge
Journal:  Vox Sang       Date:  1968       Impact factor: 2.144

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

Authors:  G L Long; T Chandra; S L Woo; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1984-10-09       Impact factor: 3.162

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

Authors:  S Weidinger; W Jahn; F Cujnik; F Schwarzfischer
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis.

Authors:  C Meisen; M Higuchi; S Bräutigam; A J Driesel; M Blandfort; K Olek
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132
  4 in total
  7 in total

1.  A novel alpha1-antitrypsin null variant (PiQ0Milano ).

Authors:  Raffaela Rametta; Gabriella Nebbia; Paola Dongiovanni; Marcello Farallo; Silvia Fargion; Luca Valenti
Journal:  World J Hepatol       Date:  2013-08-27

2.  Fine mapping of the chromosome 11q22-23 region using PFGE, linkage and haplotype analysis; localization of the gene for ataxia telangiectasia to a 5cM region flanked by NCAM/DRD2 and STMY/CJ52.75, phi 2.22.

Authors:  C M McConville; C J Formstone; D Hernandez; J Thick; A M Taylor
Journal:  Nucleic Acids Res       Date:  1990-08-11       Impact factor: 16.971

3.  Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Authors:  J Kaplan; A Pelet; H Hentati; M Jeanpierre; M L Briard; H Journel; A Munnich; J L Dufier
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

4.  A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.

Authors:  G C Frazier; M A Siewertsen; M H Hofker; M G Brubacher; D W Cox
Journal:  J Clin Invest       Date:  1990-12       Impact factor: 14.808

5.  Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

Authors:  J P Faber; W Poller; S Weidinger; M Kirchgesser; R Schwaab; F Bidlingmaier; K Olek
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

6.  The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

Authors:  Victor E Ortega; Xingnan Li; Wanda K O'Neal; Lela Lackey; Elizabeth Ampleford; Gregory A Hawkins; Philip J Grayeski; Alain Laederach; Igor Barjaktarevic; R Graham Barr; Christopher Cooper; David Couper; MeiLan K Han; Richard E Kanner; Eric C Kleerup; Fernando J Martinez; Robert Paine; Stephen P Peters; Cheryl Pirozzi; Stephen I Rennard; Prescott G Woodruff; Eric A Hoffman; Deborah A Meyers; Eugene R Bleecker
Journal:  Am J Respir Crit Care Med       Date:  2020-03-01       Impact factor: 21.405

Review 7.  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
  7 in total

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