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

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 manifestatio...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Habibzadeh, Parham, Tabatabaei, Zahra, Farazi Fard, Mohammad Ali, Jamali, Laila, Hafizi, Aazam, Nikuei, Pooneh, Salarian, Leila, Nasr Esfahani, Mohammad Hossein, Anvar, Zahra, Faghihi, Mohammad Ali
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6998079/
https://ncbi.nlm.nih.gov/pubmed/32013889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0959-8
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