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47 in total

1. Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele.

Authors: T Nukiwa; M L Brantly; F Ogushi; G A Fells; R G Crystal
Journal: Am J Hum Genet Date: 1988-09 Impact factor: 11.025

2. Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.

Authors: D Curiel; M Brantly; E Curiel; L Stier; R G Crystal
Journal: J Clin Invest Date: 1989-04 Impact factor: 14.808

3. [Alpha1-antitrypsin deficiency in Austria: analysis of the Austrian Alpha1-international-registry database].

Authors: Florian Huber; Karin Schmid-Scherzer; Felix Wantke; Sophie Frantal; Meinhard Kneussl
Journal: Wien Klin Wochenschr Date: 2010-07-14 Impact factor: 1.704

4. Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern.

Authors: M D Holmes; M L Brantly; D T Curiel; S Weidinger; R G Crystal
Journal: Am J Hum Genet Date: 1990-04 Impact factor: 11.025

5. A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.

Authors: M H Hofker; T Nukiwa; H M van Paassen; M Nelen; J A Kramps; E C Klasen; R R Frants; R G Crystal
Journal: Hum Genet Date: 1989-02 Impact factor: 4.132

6. Molecular basis for defective secretion of the Z variant of human alpha-1-proteinase inhibitor: secretion of variants having altered potential for salt bridge formation between amino acids 290 and 342.

Authors: A A McCracken; K B Kruse; J L Brown
Journal: Mol Cell Biol Date: 1989-04 Impact factor: 4.272

7. In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.

Authors: G C Fraizer; T R Harrold; M H Hofker; D W Cox
Journal: Am J Hum Genet Date: 1989-06 Impact factor: 11.025

Review 8. The epidemiology of alpha 1-antitrypsin deficiency.

Authors: D C Hutchison
Journal: Lung Date: 1990 Impact factor: 2.584

9. Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency.

Authors: G D Kelsey; D Abeliovich; C J McMahon; D Whitehouse; G Corney; S Povey; D A Hopkinson; J Wolfe; G Mieli-Vergani; A P Mowat
Journal: J Med Genet Date: 1988-06 Impact factor: 6.318

10. PI(alpha 1-antitrypsin) polymorphism in the Japanese: confirmation of PI*M4 and description of new PI variants.

Authors: I Yuasa; K Suenaga; Y Gotoh; K Ito; N Yokoyama; K Okada
Journal: Hum Genet Date: 1984 Impact factor: 4.132