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6. Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene. Kidd VJ; Golbus MS; Wallace RB; Itakura K; Woo SL N Engl J Med; 1984 Mar; 310(10):639-42. PubMed ID: 6607413 [No Abstract] [Full Text] [Related]
7. Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction (PCR). Comparison of conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis. Schwartz M; Petersen KB; Gregersen N; Hinkel K; Newton CR Clin Genet; 1989 Dec; 36(6):419-26. PubMed ID: 2574085 [TBL] [Abstract][Full Text] [Related]
8. [Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel]. Jardí R; Rodríguez-Frías F; Casas F; Cotrina M; Vidal R; Miravitlles M; Pascual C Med Clin (Barc); 1997 Oct; 109(12):463-6. PubMed ID: 9441182 [TBL] [Abstract][Full Text] [Related]
9. Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay. Lucotte G; Sesboüé R Mol Cell Probes; 1999 Oct; 13(5):389-91. PubMed ID: 10508561 [TBL] [Abstract][Full Text] [Related]
10. Rapid and inexpensive detection of alpha1-antitrypsin deficiency-related alleles S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening. Kaczor MP; Sanak M; Szczeklik A J Mol Diagn; 2007 Feb; 9(1):99-104. PubMed ID: 17251342 [TBL] [Abstract][Full Text] [Related]
11. The prevalence of alpha(1)-antitrypsin deficiency in a representative population sample from Poland. Kaczor MP; Sanak M; Libura-Twardowska M; Szczeklik A Respir Med; 2007 Dec; 101(12):2520-5. PubMed ID: 17693072 [TBL] [Abstract][Full Text] [Related]
12. Denaturing gradient gel electrophoresis of the alpha 1-antitrypsin gene: application to prenatal diagnosis. Dubel JR; Finwick R; Hejtmancik JF Am J Med Genet; 1991 Oct; 41(1):39-43. PubMed ID: 1951462 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. alpha1-antitrypsin deficiency (first of two parts). Morse JO N Engl J Med; 1978 Nov; 299(19):1045-8. PubMed ID: 360063 [No Abstract] [Full Text] [Related]
15. 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]
16. 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. Curiel D; Brantly M; Curiel E; Stier L; Crystal RG J Clin Invest; 1989 Apr; 83(4):1144-52. PubMed ID: 2539391 [TBL] [Abstract][Full Text] [Related]
17. Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes. Nukiwa T; Brantly M; Garver R; Paul L; Courtney M; LeCocq JP; Crystal RG J Clin Invest; 1986 Feb; 77(2):528-37. PubMed ID: 3484754 [TBL] [Abstract][Full Text] [Related]
18. Analysis of the alpha-1-antitrypsin deficient alleles M3S, MZ, and ZZ by biochemical and molecular methods: a family study. Calapoğlu M; Değer O; Balaban F; Sahin Calapoğlu N; Bülbül Y; Burling K Biochem Genet; 2009 Feb; 47(1-2):33-41. PubMed ID: 19083091 [TBL] [Abstract][Full Text] [Related]
20. [Identification of Pi system phenotypes and comparison of the methods for the detection of alpha-1-antitrypsin deficiencies]. Martin JP; Vandeville D; Martin C; Ropartz C Ann Biol Clin (Paris); 1974; 32(3):197-207. PubMed ID: 4214159 [No Abstract] [Full Text] [Related] [Next] [New Search]