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Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome
M. Witsch-Baumgartner, B.U. Fitzky, M. Ogorelkova, H.G. Kraft, F.F. Moebius, H. Glossmann, U. Seedorf, G. Gillessen-Kaesbach, G.F. Hoffmann, P. Clayton, R.I. Kelley, G. UtermannVolume:
66
Year:
2000
Language:
english
DOI:
10.1086/302760
File:
PDF, 646 KB
english, 2000