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Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans

โœ Scribed by Wright, Brooke S. ;Nwokoro, Ngozi A. ;Wassif, Christopher A. ;Porter, Forbes D. ;Waye, John S. ;Eng, Barry ;Nowaczyk, Ma?gorzata J.M.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
57 KB
Volume
120A
Category
Article
ISSN
0148-7299

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The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis resulting from a deficiency of the enzyme 7-dehydrocholesterol โŒฌ7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G โ†’ C transversion in the splice acce