A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

✍ Scribed by Stanley H. Korman; James J. Pitt; Avihu Boneh; Imad Dweikat; Mokhtar Zater; Vardiella Meiner; Alisa Gutman; Michèle Brivet

• Book ID: 116987894
• Publisher: Elsevier Science
• Year: 2006
• Tongue: English
• Weight: 328 KB
• Volume: 89
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2006.06.009