Literature DB >> 3491442

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

M B Allen, A M Ward, W H Perks.   

Abstract

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Year:  1986        PMID： 3491442      PMCID： PMC460392          DOI： 10.1136/thx.41.7.568

Source DB:  PubMed          Journal:  Thorax        ISSN： 0040-6376            Impact factor:   9.139


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  4 in total

1.  Genetic aspects of the Pi system.

Authors:  P J Cook
Journal:  Postgrad Med J       Date:  1974-06       Impact factor: 2.401

2.  Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects.

Authors:  R M Bruce; B H Cohen; E L Diamond; R J Fallat; R J Knudson; M D Lebowitz; C Mittman; C D Patterson; M S Tockman
Journal:  Am Rev Respir Dis       Date:  1984-09

3.  New variants of alpha 1-antitrypsin: comparison of Pi typing techniques.

Authors:  D W Cox
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

4.  Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin.

Authors:  B J Sproule; D W Cox; K Hsu; M L Salkie; F A Herbert
Journal:  Am Rev Respir Dis       Date:  1983-02
  4 in total
  4 in total

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

Authors:  A Graham; N A Kalsheker; C R Newton; F J Bamforth; S J Powell; A F Markham
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

2.  Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.

Authors:  Irene Belmonte; Miriam Barrecheguren; Rosa M López-Martínez; Cristina Esquinas; Esther Rodríguez; Marc Miravitlles; Francisco Rodríguez-Frías
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2016-10-11

3.  Functional characterization of a SNP (F51S) found in human alpha 1-antitrypsin.

Authors:  Hong-Nhung Trinh; Sei-Heon Jang; ChangWoo Lee
Journal:  Mol Genet Genomic Med       Date:  2019-06-28       Impact factor: 2.183

4.  Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.

Authors:  Philippe Joly; Olivier Guillaud; Valérie Hervieu; Alain Francina; Jean-François Mornex; Colette Chapuis-Cellier
Journal:  Orphanet J Rare Dis       Date:  2015-10-07       Impact factor: 4.123
  4 in total

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