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Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

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Year: 2001
Type: article
Source: The American Journal of Human Genetics
DOI: 10.1086/323473
Authors: Hans R. Waterham, Janet Koster, Gerrit Jan Romeijn, Raoul C.M. Hennekam, Peter Vreken, Hans C. Andersson, David R. FitzPatrick, Richard. I. Kelley, Ronald J.A. Wanders
Institutions: Amsterdam UMC Location University of Amsterdam, Emma Kinderziekenhuis, Amsterdam University Medical Centers, University of Amsterdam, Tulane University, Western General Hospital, Kennedy Krieger Institute
Language: English

Topic: Cholesterol and Lipid Metabolism
Subfield: Biochemistry
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funder: Koninklijke Nederlandse Akademie van Wetenschappen
OpenAlex ID: W2063802807
FWCI: 4.9
Cites: 46
Cited by: 362
Related to: 10
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