Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks

BackgroundSplicing is the molecular mechanism to produce mature messenger RNA (mRNA) before its translation into protein. It is estimated that 50% of disease-causing mutations disrupt splicing, mostly of them affecting canonical positions. However, variants occurring in coding regions or deep-intron...

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Main Authors: Laura Miguel Berenguel, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Pilar Nozal Aranda, Carmen Cámara Hijón, Eduardo López Granados, Rebeca Rodríguez Pena, María Bravo García-Morato
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Immunology
Subjects:
splicing mutations
reverse-transcription PCR (RT-PCR)
inborn errors of immunity
genetic validation algorithm
canonical sites of splicing
deep-intronic variants
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1499415/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2024.1499415/full

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