A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
Perla Graciela Rodríguez GutiérrezJuan Ramón González GarcíaYolanda Alicia Castillo De LeónJuan Rafael Zárate GuerreroMaría Teresa Magaña-TorresPublished in: Journal of clinical laboratory analysis (2020)
The first Mexican patient with abetalipoproteinemia presents a novel MTTP mutation p.Gly417Valfs*12. Three factors that could modulate the phenotype in abetalipoproteinemia were identified: age at diagnosis, treatment, and the causal mutation.