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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Detalhes bibliográficos
Main Authors: Fitzky, Barbara U., Witsch-Baumgartner, Martina, Erdel, Martin, Lee, Joon No, Paik, Young-Ki, Glossmann, Hartmut, Utermann, Gerd, Moebius, Fabian F.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1998
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC20950/
https://ncbi.nlm.nih.gov/pubmed/9653161
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