Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

le Setchell, K D, Schwarz, M, O'Connell, N C, Lund, E G, Davis, D L, Lathe, R, Thompson, H R, Weslie Tyson, R, Sokol, R J, Russell, D W
Foilsithe 1998