GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

✍ Scribed by Ilona Visapää; Vineta Fellman; Jouni Vesa; Ayan Dasvarma; Jenna L. Hutton; Vijay Kumar; Gregory S. Payne; Marja Makarow; Rudy Van Coster; Robert W. Taylor; Douglass M. Turnbull; Anu Suomalainen; Leena Peltonen

• Book ID: 117854013
• Publisher: American Society of Human Genetics
• Year: 2002
• Tongue: English
• Weight: 826 KB
• Volume: 71
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/342773