Associated Papers
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.
Sanchez-Pulido L et al.
Frontiers in Genetics, 2014
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD et al.
Journal of Lipid Research, 2011
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
Herman GE
Human Molecular Genetics, 2003
Malformation syndromes due to inborn errors of cholesterol synthesis.
Porter FD
The Journal of Clinical Investigation, 2002
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
Ikegawa S et al.
American Journal of Medical Genetics, 2000
Genetic defects in postsqualene cholesterol biosynthesis.
Moebius FF et al.
Trends in Endocrinology and Metabolism: Tem, 2000
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. [email protected].
Derry JM et al.
Nature Genetics, 1999
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