Literature DB >> 6601049

A new allele of alpha 1-antitrypsin: PI NADELAIDE.

J C Mulley, D W Cox, G R Sutherland.   

Abstract

The allele PI NADELAIDE (PI NADE) was named in accord with nomenclature guidelines and specifies a new co-dominant variant of alpha 1AT. Discovery was achieved by IEF and the isoelectric point of NADE is between N and NHAM. Familial inheritance of PI NADE was demonstrated and both PI M2NADE and PI M3NADE phenotypes were observed. The mobility of PI NADE is identical to PI M by both starch and agarose electrophoresis. PI NADE apparently confers normal alpha 1AT serum concentrations and is probably unrelated to disease.

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Year:  1983        PMID: 6601049     DOI: 10.1007/bf00285402

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


  7 in total

1.  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

2.  Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

3.  Immunochemical quantitation of antigens by single radial immunodiffusion.

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

4.  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

5.  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

6.  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

7.  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

  7 in total

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