11519011 |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
Waterham, HR,
Koster, J,
Romeijn, GJ,
Hennekam, RC,
Vreken, P,
Andersson, HC,
FitzPatrick, DR,
Kelley, RI
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Am J Hum Genet |
2001 |