These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
180 related articles for article (PubMed ID: 2227940)
1. Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu). Graham A; Kalsheker NA; Bamforth FJ; Newton CR; Markham AF Hum Genet; 1990 Oct; 85(5):537-40. PubMed ID: 2227940 [TBL] [Abstract][Full Text] [Related]
2. Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid. Lara B; Martínez MT; Blanco I; Hernández-Moro C; Velasco EA; Ferrarotti I; Rodriguez-Frias F; Perez L; Vazquez I; Alonso J; Posada M; Martínez-Delgado B Respir Res; 2014 Oct; 15(1):125. PubMed ID: 25287719 [TBL] [Abstract][Full Text] [Related]
3. What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation. Kalsheker N; Hayes K; Weidinger S; Graham A J Med Genet; 1992 Jan; 29(1):27-9. PubMed ID: 1552539 [TBL] [Abstract][Full Text] [Related]
4. TGGE and HIEF: a comparison of two methods in the detection of carriers of the Z mutation in the alpha-1-antitrypsin gene. Hinney A; Dürr C; Luckenbach C; Ritter H Hum Genet; 1994 May; 93(5):571-4. PubMed ID: 8168837 [TBL] [Abstract][Full Text] [Related]
5. 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; 1(4):329-34. PubMed ID: 2624766 [TBL] [Abstract][Full Text] [Related]
6. Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). Graham A; Kalsheker NA; Newton CR; Bamforth FJ; Powell SJ; Markham AF Hum Genet; 1989 Dec; 84(1):55-8. PubMed ID: 2606478 [TBL] [Abstract][Full Text] [Related]
7. Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton. Fraizer GC; Siewertsen M; Harrold TR; Cox DW Hum Genet; 1989 Nov; 83(4):377-82. PubMed ID: 2807278 [TBL] [Abstract][Full Text] [Related]
8. New Matamala N; Gomez-Mariano G; Perez JA; Baladrón B; Torres-Durán M; Michel FJ; Saez R; Hernández-Pérez JM; Belmonte I; Rodriguez-Frias F; Blanco I; Strnad P; Janciauskiene S; Martinez-Delgado B Am J Respir Cell Mol Biol; 2020 Oct; 63(4):444-451. PubMed ID: 32515985 [TBL] [Abstract][Full Text] [Related]
9. Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site. Dry PJ Hum Genet; 1991 Oct; 87(6):742-4. PubMed ID: 1937480 [TBL] [Abstract][Full Text] [Related]
10. Absence of alpha-1-antitrypsin (Pi Null Bellingham) and the early onset of emphysema. Cook L; Janus ED; Brenton S; Tai E; Burdon J Aust N Z J Med; 1994 Jun; 24(3):263-9. PubMed ID: 7980208 [TBL] [Abstract][Full Text] [Related]
11. Detection of alpha 1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis. Tazelaar JP; Friedman KJ; Kline RS; Guthrie ML; Farber RA Clin Chem; 1992 Aug; 38(8 Pt 1):1486-8. PubMed ID: 1643720 [TBL] [Abstract][Full Text] [Related]
12. 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 [TBL] [Abstract][Full Text] [Related]
13. Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis. Lodewyckx L; Vandevyver C; Vandervorst C; Van Steenbergen W; Raus J; Michiels L Hum Mutat; 2001 Sep; 18(3):243-50. PubMed ID: 11524735 [TBL] [Abstract][Full Text] [Related]
14. A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen. Hofker MH; Nukiwa T; van Paassen HM; Nelen M; Kramps JA; Klasen EC; Frants RR; Crystal RG Hum Genet; 1989 Feb; 81(3):264-8. PubMed ID: 2784123 [TBL] [Abstract][Full Text] [Related]
15. Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products. Newton CR; Kalsheker N; Graham A; Powell S; Gammack A; Riley J; Markham AF Nucleic Acids Res; 1988 Sep; 16(17):8233-43. PubMed ID: 3262215 [TBL] [Abstract][Full Text] [Related]
16. Rapid and simple diagnosis of the two common alpha 1-proteinase inhibitor deficiency alleles Pi*Z and Pi*S by DNA analysis. Braun A; Meyer P; Cleve H; Roscher AA Eur J Clin Chem Clin Biochem; 1996 Sep; 34(9):761-4. PubMed ID: 8891530 [TBL] [Abstract][Full Text] [Related]
17. 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 [TBL] [Abstract][Full Text] [Related]
18. A naturally occurring nonpolymerogenic mutant of alpha 1-antitrypsin characterized by prolonged retention in the endoplasmic reticulum. Lin L; Schmidt B; Teckman J; Perlmutter DH J Biol Chem; 2001 Sep; 276(36):33893-8. PubMed ID: 11427540 [TBL] [Abstract][Full Text] [Related]
19. A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation. Bates KJ; Puxley M; Hill M; Kalsheker N; Barlow A; Clark BE; Sherwood RA Ann Clin Biochem; 2013 Nov; 50(Pt 6):618-21. PubMed ID: 23858502 [TBL] [Abstract][Full Text] [Related]