1 | ABCA3, SMDP3
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| Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
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| Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Brémont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L.
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| Hum Mol Genet 21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7.
2012
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2 | ABCA3, SMDP3
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| Identification and characterization of a novel ABCA3 mutation.
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| Park SK, Amos L, Rao A, Quasney MW, Matsumura Y, Inagaki N, Dahmer MK.
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| Physiol Genomics 40(2):94-9. Epub 2009 Oct 27.
2010
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3 | ABCA3, SMDP3
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| ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn.
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| Anandarajan M, Paulraj S, Tubman R.
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| Ulster Med J 78(1):51-2.
2009
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4 | ABCA3, PRPH2, SMDP3
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| Surfactant composition and function in patients with ABCA3 mutations.
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| Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A.
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| Pediatr Res 59(6):801-5. Epub 2006 Apr 26. 2006
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5 | ABCA3, PRPH2, SMDP3
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| ABCA3 gene mutations in newborns with fatal surfactant deficiency.
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| Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M.
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| N Engl J Med 350(13):1296-303. 2004
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6 | RDS, SFTPA1, SFTPA2, SFTPB, SMDP3
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| Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome.
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| Haataja R, Ramet M, Marttila R, Hallman M.
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| Hum Mol Genet 9(18):2751-60. 2000
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