Authors:
Waterham, HR
Koster, J
Romeijn, GJ
Hennekam, RCM
Vreken, P
Andersson, HC
FitzPatrick, DR
Kelley, RI
Wanders, RJA
Citation: Hr. Waterham et al., Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis, AM J HU GEN, 69(4), 2001, pp. 685-694