Homozygosity for the W151X stop mutation in the ?7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

✍ Scribed by L�ffler, Judith ;Trojovsky, Alexander ;Casati, Bettina ;Kroisel, Peter M. ;Utermann, Gerd

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 251 KB
• Volume: 95
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/1096-8628(20001113)95:2<174::aid-ajmg16>3.0.co;2-9