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

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

Abstract 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 sequen...

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Bibliographic Details
Main Authors: Fereshteh Maryami, Elham Rismani, Elham Davoudi-Dehaghani, Nasrin Khalesi, Fatemeh Zafarghandi Motlagh, Alireza Kordafshari, Saeed Talebi, Hamzeh Rahimi, Sirous Zeinali
Format: Article
Language:English
Published: BMC 2023-05-01
Series:Hereditas
Subjects:
Methylmalonic acidemia
Whole-exome sequencing
MMAB
Corrinoid adenosyltransferase
Homology modeling
Bioinformatics
Online Access:https://doi.org/10.1186/s41065-023-00281-0

Internet

https://doi.org/10.1186/s41065-023-00281-0

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