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Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Author:

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. Utermann

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

February 2000

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