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Published in 2020 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1008628
Abstract: Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis pathway. Biallelic mutations in LSS have…
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Keywords:
hypotrichosis;
lss deficiency;
mice;
lss ... See more keywords