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Results: 1-2 |
Results: 2
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
Authors: Tiecke, F Katzke, S Booms, P Robinson, PN Neumann, L Godfrey, M Mathews, KR Scheuner, M Hinkel, GK Brenner, RE Hovels-Gurich, HH Hagemeier, C Fuchs, J Skovby, F Rosenberg, T
Citation: F. Tiecke et al., Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40, EUR J HUM G, 9(1), 2001, pp. 13-21
Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome
Authors: Booms, P Cisler, J Mathews, KR Godfrey, M Tiecke, F Kaufmann, UC Vetter, U Hagemeier, C Robinson, PN
Citation: P. Booms et al., Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome, CLIN GENET, 55(2), 1999, pp. 110-117
Risultati: 1-2 |