Genetic-molecular characterization in the diagnosis of primary immunodeficiencies

Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of Data: Non-systematic literature review, searchin...

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Autores:
Tipo de recurso:
Article of investigation
Fecha de publicación:
2020
Institución:
Universidad de Bogotá Jorge Tadeo Lozano
Repositorio:
Expeditio: repositorio UTadeo
Idioma:
eng
OAI Identifier:
oai:expeditiorepositorio.utadeo.edu.co:20.500.12010/15323
Acceso en línea:
https://doi.org/10.1016/j.jped.2020.09.007
http://hdl.handle.net/20.500.12010/15323
Palabra clave:
Primary immunodeficiency diseases
Genetic tests
Whole exome sequencing
Whole genome sequencing
Síndrome respiratorio agudo grave
COVID-19
SARS-CoV-2
Coronavirus
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