Article
Polymorphisms of CYP51A1 from cholesterol synthesis: associations with birth weight and maternal lipid levels and impact on CYP51 protein structure.
PloS one - 1 Jan 2013
Lewińska Monika, Zelenko Urska, Merzel Franci, Golic Grdadolnik Simona, Murray Jeffrey C, Rozman Damjana
Abstract excerpt
We investigated the housekeeping cytochrome P450 CYP51A1 encoding lanosterol 14α-demethylase from cholesterol synthesis that was so far not directly linked to human disorders. By direct sequencing of CYP51A1 in 188 women with spontaneous preterm delivery and 188 unrelated preterm infants (gestational age <37 weeks) we identified 22 variants where 10 are novel and rare. In infants there were two novel CYP51A1...
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