Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome
Abstract Smith-Lemli-Opitz Syndrome (SLOS) is a recessive human disease caused by defective cholesterol (CHOL) synthesis at the level of DHCR7 (7-dehydrocholesterol reductase), which normally catalyzes the conversion of 7-dehydrocholesterol (7DHC) to CHOL. Formation and abnormal accumulation of 7DHC...
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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Nature Portfolio
2018
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| Accès en ligne: | https://doaj.org/article/0f9352eaa4c44a5492915c722acf3157 |
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