Literature DB >> 6971795

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

J C Mulley, G R Sutherland.   

Abstract

PI phenotypes (including subtypes) were determined for 168 individuals with chromosomal abnormalities ascertained in Adelaide. These included patients with mosaicism, trisomy 21, trisomy 13, trisomy 18, and various sex chromosome aberrations (45,X, 47,XXX, 47,XXY, 47, XYY, and 48,XXXY). Data did not support an existing proposition that mildly deficient PI phenotypes predispose to abnormal chromosome segregation during mitosis of meiosis. Phenotypic distributions of each group were statistically similar to control populations of cord bloods and bloods donors.

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Year:  1981        PMID： 6971795     DOI： 10.1007/BF00282017

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


  20 in total

1.  Pi (antitrypsin) typing methods. A comparison of acid starch-gel electrophoresis and isoelectric focusing.

Authors:  A M Ward; J D Pickering; M K Fagerhol; J P Martin
Journal:  Hum Hered       Date:  1977       Impact factor: 0.444

2.  Alpha-1-antitrypsin (Pi)-types in recurrent miscarriages.

Authors:  D Aarskog; P Aarseth; M K Fagerhol
Journal:  Clin Genet       Date:  1978-01       Impact factor: 4.438

3.  International system for human gene nomenclature (1979) ISGN (1979).

Authors:  T B Shows; C A Alper; D Bootsma; M Dorf; T Douglas; T Huisman; S Kit; H P Klinger; C Kozak; P A Lalley; D Lindsley; P J McAlpine; J K McDougall; P Meera Khan; M Meisler; N E Morton; J M Opitz; C W Partridge; R Payne; T H Roderick; P Rubinstein; F H Ruddle; M Shaw; J W Spranger; K Weiss
Journal:  Cytogenet Cell Genet       Date:  1979

Review 4.  alpha1-antitrypsin deficiency (first of two parts).

Authors:  J O Morse
Journal:  N Engl J Med       Date:  1978-11-09       Impact factor: 91.245

5.  Report of Nomenclature Meeting for alpha 1-antitrypsin, INSERM, Rouen/Bois-Guillaume-1978.

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

6.  Reliable classification of six Pi M subtypes by separator isoelectric focusing.

Authors:  R R Frants; A W Eriksson
Journal:  Hum Hered       Date:  1978       Impact factor: 0.444

7.  Application of isoelectric focusing in alpha1-antitrypsin phenotyping.

Authors:  J J Hoffmann; W G van den Brock
Journal:  Clin Chim Acta       Date:  1977-03-01       Impact factor: 3.786

8.  Distribution of the six alpha 1-antitrypsin (PI) subtypes from a sample of blood donors.

Authors:  J C Mulley
Journal:  Aust J Exp Biol Med Sci       Date:  1980-08

9.  Alpha1-antitrypsin phenotypes in sex chromosome mosaicism.

Authors:  F Kueppers; P O'Brien; E Passarge; H W Rüdiger
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

10.  Down syndrome in two of three triplets.

Authors:  R M Liberfarb; L Atkins; L B Holmes
Journal:  Clin Genet       Date:  1978-11       Impact factor: 4.438
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