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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G. Witsch-Baumgartner M, et al. Among authors: utermann g. Am J Hum Genet. 2000 Feb;66(2):402-12. doi: 10.1086/302760. Am J Hum Genet. 2000. PMID: 10677299 Free PMC article.
261 results