Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

Autor: Sinje Geuer, Udo F. H. Engelke, John Cardinal, James McGill, James Pitt, Hans R. Waterham, Janet Koster, John Christodoulou, Anita Inwood, David Coman, Barbra Hallinan, Lisenka E.L.M. Vissers, Sarah Hopkins, Larry Sweetman, Roxanna Hauck, T. Andrew Burrow, Lisa G. Riley, Christine Gurnsey, Ron A. Wevers, Michael Kwint

Publikováno v: American journal of human genetics, 103(1), 125-130. Cell Press
American Journal of Human Genetics, 103, 1, pp. 125-130
American Journal of Human Genetics, 103, 125-130

Mendelian disorders of cholesterol biosynthesis typically result in multi-system clinical phenotypes, underlining the importance of cholesterol in embryogenesis and development. FDFT1 encodes for an evolutionarily conserved enzyme, squalene synthase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08d95df8c9a8b78a8aa55dd91fa106d
https://pure.amc.nl/en/publications/squalene-synthase-deficiency-clinical-biochemical-and-molecular-characterization-of-a-defect-in-cholesterol-biosynthesis(b584ad9a-21ee-453c-8138-6bb2a2566d74).html