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Year | Number of Results |
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1999 | 1 |
2001 | 1 |
2008 | 1 |
2009 | 1 |
2016 | 1 |
2024 | 0 |
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Page 1
Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).
Eur J Hum Genet. 1999 Apr;7(3):321-31. doi: 10.1038/sj.ejhg.5200304.
Eur J Hum Genet. 1999.
PMID: 10234508
SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations.
Zorzetto M, Russi E, Senn O, Imboden M, Ferrarotti I, Tinelli C, Campo I, Ottaviani S, Scabini R, von Eckardstein A, Berger W, Brändli O, Rochat T, Luisetti M, Probst-Hensch N; SAPALDIA Team.
Zorzetto M, et al.
Clin Chem. 2008 Aug;54(8):1331-8. doi: 10.1373/clinchem.2007.102798. Epub 2008 May 29.
Clin Chem. 2008.
PMID: 18515255
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Association between the defective Pro369Ser mutation and in vivo intrahepatic 1-antitrypsin accumulation.
Seixas S, Lopes AI, Rocha J, Silva L, Salgueiro C, Salazar-de-Sousa J, Batista A.
Seixas S, et al.
J Med Genet. 2001 Jul;38(7):472-4. doi: 10.1136/jmg.38.7.472.
J Med Genet. 2001.
PMID: 11474657
Free PMC article.
No abstract available.
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Molecular characterization of the new defective P(brescia) alpha1-antitrypsin allele.
Medicina D, Montani N, Fra AM, Tiberio L, Corda L, Miranda E, Pezzini A, Bonetti F, Ingrassia R, Scabini R, Facchetti F, Schiaffonati L.
Medicina D, et al.
Hum Mutat. 2009 Aug;30(8):E771-81. doi: 10.1002/humu.21043.
Hum Mutat. 2009.
PMID: 19437508
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Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
Silva D, Oliveira MJ, Guimarães M, Lima R, Gomes S, Seixas S.
Silva D, et al.
Respir Med. 2016 Jul;116:8-18. doi: 10.1016/j.rmed.2016.05.002. Epub 2016 May 3.
Respir Med. 2016.
PMID: 27296815
Free article.
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