Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach

BACKGROUND: Methylmalonic acidemia (MMA) is a rare metabolic disorder resulting from functional defects in methylmalonyl-CoA mutase. Mutations in the MMAB gene are responsible for the cblB type of vitamin B12-responsive MMA. RESULTS: This study used Whole-exome sequencing (WES), Sanger sequencing, l...

Descripción completa

Detalles Bibliográficos
Autores principales: Maryami, Fereshteh, Rismani, Elham, Davoudi-Dehaghani, Elham, Khalesi, Nasrin, Motlagh, Fatemeh Zafarghandi, Kordafshari, Alireza, Talebi, Saeed, Rahimi, Hamzeh, Zeinali, Sirous
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226198/
https://www.ncbi.nlm.nih.gov/pubmed/37248539
http://dx.doi.org/10.1186/s41065-023-00281-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226198/
https://www.ncbi.nlm.nih.gov/pubmed/37248539
http://dx.doi.org/10.1186/s41065-023-00281-0

Ejemplares similares