Literature DB >> 1080809

Alpha1-antitrypsin phenotypes in sex chromosome mosaicism.

F Kueppers, P O'Brien, E Passarge, H W Rüdiger.   

Abstract

We report the alpha1-antitrypsin phenotypes of 21 patients with sex chromosome mosaicism and their parents. The proportion of heterozygotes in the group of parents is significantly greater (p less than 0.01) than that proportion in both control groups. The maternal or paternal contribution to the statistical significance of this observation cannot be distinguished in our small sample of families.

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Year:  1975        PMID： 1080809      PMCID： PMC1013286          DOI： 10.1136/jmg.12.3.263

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Protease inhibitor (Pi) phenotypes in chromosome aberrations.

Authors:  D Aarskog; M K Fagerhol
Journal:  J Med Genet       Date:  1970-12       Impact factor: 6.318

Review 2.  The Pi system-inherited variants of serum alpha 1-antitrypsin.

Authors:  M K Fagerhol; C B Laurell
Journal:  Prog Med Genet       Date:  1970

3.  Gene frequencies of red cell adenosine deaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum alpha-1-Antitrypsin (Pi) in a German population.

Authors:  H W Goedde; H G Benkmann; I Christ; S Singh; L Hirth
Journal:  Humangenetik       Date:  1970

Review 4.  Alpha-1-antitrypsin: physiology, genetics and pathology.

Authors:  F Kueppers
Journal:  Humangenetik       Date:  1971

5.  Serum Pi types in Norwegians.

Authors:  M K Fagerhol
Journal:  Acta Pathol Microbiol Scand       Date:  1967

6.  Immunologic assay of alpha-1-antitrypsin in deficient subjects and their families.

Authors:  F Kueppers
Journal:  Humangenetik       Date:  1967-11-29
  6 in total
  2 in total

1.  Distribution of alpha 1-antitrypsin (PI) phenotypes in chromosome abnormalities.

Authors:  J C Mulley; G R Sutherland
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  Antiproteases and Down's syndrome in an Australian population.

Authors:  H McPhee; R Ananthakrishnan; L I Taft
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318
  2 in total

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