| 1 | COPD1, SERPINA1
|
| A Novel SERPINA1 Mutation Causing Serum Alpha(1)-Antitrypsin Deficiency.
|
| Saunders DN, Tindall EA, Shearer RF, Roberson J, Decker A, Wilson JA, Hayes VM.
|
| PLoS One 7(12):e51762. doi: 10.1371/journal.pone.0051762. Epub 2012 Dec 12. 2012
|
| 2 | COPD1
|
| Gene therapy for alpha-1 antitrypsin deficiency.
|
| Flotte TR, Mueller C.
|
| Hum Mol Genet 20(R1):R87-92. Epub 2011 Apr 16. Review.
2011
|
| 3 | COPD1, SERPINA1
|
| Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells.
|
| Yusa K, Rashid ST, Strick-Marchand H, Varela I, Liu PQ, Paschon DE, Miranda E, Ordóñez A, Hannan NR, Rouhani FJ, Darche S, Alexander G, Marciniak SJ, Fusaki N, Hasegawa M, Holmes MC, Di Santo JP, Lomas DA, Bradley A, Vallier L.
|
| Nature 478(7369):391-4. doi: 10.1038/nature10424.
2011
|
| 4 | COPD1, SERPINA1
|
| The prevalence of alpha-1 antitrypsin deficiency in Ireland.
|
| Carroll TP, O'Connor CA, Floyd O, McPartlin J, Kelleher DP, O'Brien G, Dimitrov BD, Morris VB, Taggart CC, McElvaney NG.
|
| Respir Res 12:91. doi: 10.1186/1465-9921-12-91.
2011
|
| 5 | COPD1, SERPINA1
|
| Cardiovascular and musculskeletal co-morbidities in patients with alpha 1 antitrypsin deficiency.
|
| Duckers JM, Shale DJ, Stockley RA, Gale NS, Evans BA, Cockcroft JR, Bolton CE.
|
| Respir Res 11:173. doi: 10.1186/1465-9921-11-173.
2010
|
| 6 | COPD1, SERPINA1
|
| Linkage analysis of alpha 1-antitrypsin deficiency: lessons for complex diseases.
|
| Silverman EK, Mosley JD, Rao DC, Palmer LJ, Province MA, Elston RC, Weiss ST, Campbell EJ.
|
| Hum Hered 52(4):223-32. 2001
|
| 7 | COPD1, SERPINA1
|
| A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis.
|
| Borgmann S, Endisch G, Urban S, Sitter T, Fricke H.
|
| Clin Immunol 98(2):244-8. 2001
|
| 8 | SERPINA1, COPD1
|
| 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 2(3):221-8. 1993
|
| 9 | SERPINA1, COPD1
|
| 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 85(5):537-40. 1990
|
| 10 | SERPINA1, COPD1
|
| Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes.
|
| Garver RI Jr, Mornex JF, Nukiwa T, Brantly M, Courtney M, LeCocq JP, Crystal RG.
|
| N Engl J Med 314(12):762-6. No abstract available. 1986
|
| 11 | SERPINA1, COPD1
|
| Alpha 1-antitrypsin in patients with hepatocellular carcinoma and chronic active hepatitis.
|
| Fargion S, Klasen EC, Lalatta F, Sangalli G, Tommasini M, Fiorelli G.
|
| Clin Genet 19(2):134-9. 1981
|