Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene | BMC Medical Genetics | Full Text

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene | BMC Medical Genetics | Full Text

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

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...

Authors:Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar and Mohammad Ali Faghihi

Citation:BMC Medical Genetics 2020 21:22

Content type:Case report

Published on: 3 February 2020

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