A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis

por Schneider, Hauke, Lingesleben, Alexandra, Vogel, Hans-Peter, Garuti, Rita, Calandra, Sebastiano
Publicado 2010

A Sequence Variation (I148M) in PNPLA3 Associated with Nonalcoholic Fatty Liver Disease Disrupts Triglyceride Hydrolysis

por He, Shaoqing, McPhaul, Christopher, Li, John Zhong, Garuti, Rita, Kinch, Lisa, Grishin, Nick V., Cohen, Jonathan C., Hobbs, Helen H.
Publicado 2010