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Normal post-squalene cholesterol biosynthesis is important for mammalian embryonic development. Neonatal mice lacking functional dehydrocholesterol Delta7-reductase (Dhcr7), a model for the human disease of Smith-Lemli-Opitz syndrome, die within 24 hours of birth. Although they have a number of biochemical and structural abnormalities, one cause of death is from apparent respiratory failure due to developmental pulmonary abnormalities.
Pubmed ID: 15005800
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Public image processing and analysis program for Macintosh.
View all literature mentionsMus musculus with name C57BL/6J from IMSR.
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