Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

✍ Scribed by Lam, Christina; Gallo, Linda K.; Dineen, Richard; Ciccone, Carla; Dorward, Heidi; Hoganson, George E.; Wolfe, Lynne; Gahl, William A.; Huizing, Marjan

• Book ID: 122385215
• Publisher: Elsevier
• Year: 2014
• Tongue: English
• Weight: 327 KB
• Volume: 1
• Category: Article
• ISSN: 2214-4269
• DOI: 10.1016/j.ymgmr.2014.02.003