Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status

✍ Scribed by Stanley H Korman; Alisa Gutman; Rivka Brooks; Thayline Sinnathamby; Niels Gregersen; Brage S Andresen

• Book ID: 116987494
• Publisher: Elsevier Science
• Year: 2004
• Tongue: English
• Weight: 573 KB
• Volume: 82
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2004.03.002