Detection of a common mutation in the RS
โ
Yu, Hongwei; Tint, G. Stephen; Salen, Gerald; Patel, Shailendra B.
๐
Article
๐
2000
๐
John Wiley and Sons
๐
English
โ 24 KB
๐ 1 views
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 โฌ7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G โ C transversion in the splice acce