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pro vyhledávání: '"Laura Greeley"'
Autor:
Kathleen Boesze-Battaglia, Monika Damek-Poprawa, Drake C. Mitchell, Laura Greeley, Richard S. Brush, Robert E. Anderson, Michael J. Richards, Steven J. Fliesler
Publikováno v:
Journal of Lipid Research, Vol 49, Iss 7, Pp 1488-1499 (2008)
Smith-Lemli-Opitz syndrome (SLOS) is caused by an inherited defect in the last step in cholesterol (Chol) biosynthesis, leading to abnormal accumulation of 7-dehydrocholesterol and decreased Chol levels. Progressive retinal degeneration occurs in an
Externí odkaz:
https://doaj.org/article/9d3d668913d045f9bb9a42761b14344d
