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372 related items for PubMed ID: 8364590
1. Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte. Hildesheim J, Kinsley G, Bissell M, Pierce J, Brantly M. Hum Mutat; 1993; 2(3):221-8. PubMed ID: 8364590 [Abstract] [Full Text] [Related]
4. Characterization of the sequence of the normal alpha-1-antitrypsin M3 allele and function of the M3 protein. Curiel D, Laubach V, Vogelmeier C, Wurts L, Crystal RG. Am J Respir Cell Mol Biol; 1989 Dec; 1(6):471-7. PubMed ID: 2637759 [Abstract] [Full Text] [Related]
5. Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile). Poller W, Merklein F, Schneider-Rasp S, Haack A, Fechner H, Wang H, Anagnostopoulos I, Weidinger S. Eur J Hum Genet; 1999 Apr; 7(3):321-31. PubMed ID: 10234508 [Abstract] [Full Text] [Related]
15. Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing. Laubach VE, Ryan WJ, Brantly M. Hum Mol Genet; 1993 Jul; 2(7):1001-5. PubMed ID: 8364536 [Abstract] [Full Text] [Related]
16. Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants. Ljujic M, Topic A, Divac A, Nikolic A, Petrovic-Stanojevic N, Surlan M, Mitic-Milikic M, Radojkovic D. Transl Res; 2008 May; 151(5):255-9. PubMed ID: 18433707 [Abstract] [Full Text] [Related]
17. Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. Seyama K, Nukiwa T, Takabe K, Takahashi H, Miyake K, Kira S. J Biol Chem; 1991 Jul 05; 266(19):12627-32. PubMed ID: 1905728 [Abstract] [Full Text] [Related]
18. [Determination of alpha 1 antitrypsin phenotypes in plasma using isoelectric focusing on this agarose gel]. Renversez JC, Lebrun-Fourcy C, Rondot J, Revol C. Pathol Biol (Paris); 1998 Jan 05; 46(1):15-20. PubMed ID: 9769931 [Abstract] [Full Text] [Related]
19. Ribonuclease A cleavage combined with the polymerase chain reaction for detection of the Z mutation of the alpha-1-antitrypsin gene. Abe T, Takahashi H, Holmes MD, Curiel DT, Crystal RG. Am J Respir Cell Mol Biol; 1989 Oct 05; 1(4):329-34. PubMed ID: 2624766 [Abstract] [Full Text] [Related]
20. Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida. Takahashi H, Nukiwa T, Satoh K, Ogushi F, Brantly M, Fells G, Stier L, Courtney M, Crystal RG. J Biol Chem; 1988 Oct 25; 263(30):15528-34. PubMed ID: 3262617 [Abstract] [Full Text] [Related] Page: [Next] [New Search]