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Article

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

Hereditas - 29 May 2023

Maryami Fereshteh, Rismani Elham, Davoudi-Dehaghani Elham, Khalesi Nasrin, Motlagh Fatemeh Zafarghandi, Kordafshari Alireza, Talebi Saeed, Rahimi Hamzeh, Zeinali Sirous

Abstract excerpt

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, linkage analysis, and in-silico evaluation of the variants' effect on protein structure and function to confirm their...

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Identifiers

PMID: 37248539
DOI: 10.1186/s41065-023-00281-0
PMCID: PMC10226198

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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