𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

✍ Scribed by Witsch-Baumgartner, M; Ciara, E; Löffler, J; Menzel, H J; Seedorf, U; Burn, J; Gillessen-Kaesbach, G; Hoffmann, G F; Fitzky, B U; Mundy, H


Book ID
110025070
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
107 KB
Volume
9
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Identification of nine novel DHCR7 misse
✍ John S. Waye; Patrycja A. Krakowiak; Christopher A. Wassif; Allison L. Sterner; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 1 views

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred point mu