Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients

Inborn errors of immunity (IEI) include a large group of inherited diseases sharing either poor, dysregulated, or absent and/or acquired function in one or more components of the immune system. Next-generation sequencing (NGS) has driven a rapid increase in the recognition of such defects, though th...

Descripción completa

Detalles Bibliográficos
Autores principales: Grossi, Alice, Miano, Maurizio, Lanciotti, Marina, Fioredda, Francesca, Guardo, Daniela, Palmisani, Elena, Terranova, Paola, Santamaria, Giuseppe, Caroli, Francesco, Caorsi, Roberta, Volpi, Stefano, Gattorno, Marco, Dufour, Carlo, Ceccherini, Isabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469131/
https://www.ncbi.nlm.nih.gov/pubmed/34573280
http://dx.doi.org/10.3390/genes12091299

Ejemplares similares

Ejemplares similares