Mutations in the Δ7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

Barbara U. Fitzky, Martina Witsch-Baumgartner, Martin Erdel, Joon No Lee, Young Ki Paik, Hartmut Glossmann, Gerd Utermann, Fabian F. Moebius

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313 Citations (Scopus)

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Medicine & Life Sciences