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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6998079/
https://www.ncbi.nlm.nih.gov/pubmed/32013889
http://dx.doi.org/10.1186/s12881-020-0959-8

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