Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort.

doi:10.3390/genes15091197

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Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort.

Genes - 12 Sept 2024

Tourtourikov Ivan, Todorov Tihomir, Angelov Teodor, Chamova Teodora, Tournev Ivailo, Mitev Vanyo, Todorova Albena

Abstract excerpt

This study investigated the role of the CHGB P413L variant (rs742710) in sporadic amyotrophic lateral sclerosis (sALS) within the Bulgarian population. We analyzed 150 patients with sALS (85 male and 65 female) for the presence of this variant, its potential impact on disease susceptibility, and age of onset. Genotyping was performed using PCR amplification and direct Sanger sequencing. Statistical analyses...

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PMID: 39336788
DOI: 10.3390/genes15091197
PMCID: PMC11431727

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