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22. Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. Bamforth FJ; Kalsheker NA J Med Genet; 1988 Feb; 25(2):83-7. PubMed ID: 2831367 [TBL] [Abstract][Full Text] [Related]
24. 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]
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30. Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network. Lopez-Campos JL; Rapun N; Czischke K; Jardim JR; Acquier MF; Munive AA; Günen H; Drobnic E; Miravitlles M; Osaba L Hum Genomics; 2023 Jun; 17(1):48. PubMed ID: 37277845 [TBL] [Abstract][Full Text] [Related]
31. 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]
32. Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient. Miyahara N; Seyama K; Sato T; Fukuchi Y; Eda R; Takeyama H; Harada M Intern Med; 2001 Apr; 40(4):336-40. PubMed ID: 11334395 [TBL] [Abstract][Full Text] [Related]
33. Genetic study of Tunisian Berbers. II. Alpha 1-antitrypsin (Pi) polymorphism: report of a new allele (Pi S Berber). Chaabani H; Martin JP; Frants RR; Lefranc G Exp Clin Immunogenet; 1984; 1(1):19-24. PubMed ID: 6400989 [TBL] [Abstract][Full Text] [Related]
34. 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]
35. Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency. Zhan SH; Abboud RT; Jung B; Kuchinka B; Ralston D; Casey B; Mattman A Clin Biochem; 2012 Apr; 45(6):499-501. PubMed ID: 22330941 [TBL] [Abstract][Full Text] [Related]
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37. Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease. Cox DW; Mansfield T J Med Genet; 1987 Jan; 24(1):52-9. PubMed ID: 2879935 [TBL] [Abstract][Full Text] [Related]
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40. PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan. Yuasa I; Sugimoto Y; Ichinose M; Matsumoto Y; Fukumaki Y; Sasaki T; Okada K Jpn J Hum Genet; 1993 Jun; 38(2):185-91. PubMed ID: 8358043 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]