Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7
✍ Scribed by M.L. Cardoso; A. Balreira; E. Martins; L. Nunes; A. Cabral; M. Marques; M. Reis Lima; J.S. Marques; A. Medeira; I. Cordeiro; S. Pedro; M.C. Mota; C. Dionisi-Vici; F.M. Santorelli; C. Jakobs; P.T. Clayton; L. Vilarinho
- Book ID
- 116987626
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 537 KB
- Volume
- 85
- Category
- Article
- ISSN
- 1096-7192
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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
The Smith-Lemli-Opitz syndrome (SLOS) is a phenotypically variable metabolic malformation and mental retardation syndrome for which more than 80 mutations in the DHCR7 disease-causing gene have been described. The DHCR7 mutational spectra differ significantly in different areas of Europe, and severa