Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

• मुख्य लेखकों: Parham Habibzadeh (लेखक), Zahra Tabatabaei (लेखक), Mohammad Ali Farazi Fard (लेखक), Laila Jamali (लेखक), Aazam Hafizi (लेखक), Pooneh Nikuei (लेखक), Leila Salarian (लेखक), Mohammad Hossein Nasr Esfahani (लेखक), Zahra Anvar (लेखक), Mohammad Ali Faghihi (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is impaired in this disorder, leading to a wide range of clinical mani...