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

Author:

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

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

October 2001

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