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A mutation in CFTR produces different phenotypes depending on chromosomal background
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Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, Amos J, Highsmith WE, Shuber A, Witt DR, Crystal RG, Cutting GR: A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993, 5:274-278. These data suggest that the expression of a mutant phenotype in patients with CF can depend on polymorphic, nonmutated regions elsewhere in the CFTR gene.
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(1993)
Nat Genet
, vol.5
, pp. 274-278
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Kiesewetter, S.1
Macek Jr., M.2
Davis, C.3
Curristin, S.M.4
Chu, C.S.5
Graham, C.6
Shrimpton, A.E.7
Cashman, S.M.8
Tsui, L.C.9
Mickle, J.10
Amos, J.11
Highsmith, W.E.12
Shuber, A.13
Witt, D.R.14
Crystal, R.G.15
Cutting, G.R.16
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46
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8244257360
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A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations
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Kerem E, Rave-Harel N, Augarten A, Madgar I, Nissim-Rafinia M, Yahav Y, Goshen R, Bentur L, Rivlin J, Aviram M, Genem A, Chiba-Falek O, Kraemer MR, Simon A, Branski D, Kerem B: A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. Am J Respir Crit Care Med 1997, 155:1914-1920.
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(1997)
Am J Respir Crit Care Med
, vol.155
, pp. 1914-1920
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Kerem, E.1
Rave-Harel, N.2
Augarten, A.3
Madgar, I.4
Nissim-Rafinia, M.5
Yahav, Y.6
Goshen, R.7
Bentur, L.8
Rivlin, J.9
Aviram, M.10
Genem, A.11
Chiba-Falek, O.12
Kraemer, M.R.13
Simon, A.14
Branski, D.15
Kerem, B.16
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