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

The Smith–Lemli–Opitz syndrome (SLOS) is an inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from mental retardation. Here we identify the SLOS gene as a Δ7-sterol reductase (DHCR7, EC 1.3.1.21) required for the de novo biosynthes...

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Autori principali: Fitzky, Barbara U., Witsch-Baumgartner, Martina, Erdel, Martin, Lee, Joon No, Paik, Young-Ki, Glossmann, Hartmut, Utermann, Gerd, Moebius, Fabian F.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 1998
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC20950/
https://ncbi.nlm.nih.gov/pubmed/9653161
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