cholesterol biosynthesis
Pathology (Anomalies of cholesterol biosynthesis)
deficiency of 3beta-hydroxysteroid-delta5-desaturase (lathosterolosis) by mutations in the 3beta-hydroxysteroid-Delta(5)-desaturase (SC5D) (#12189593#)
References
Herman GE. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet. 2003 Apr 2;12(Suppl 1):R75-88. PMID: #12668600#
Farese RV Jr, Herz J. Cholesterol metabolism and embryogenesis. Trends Genet. 1998 Mar;14(3):115-20. PMID: #9540409#
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