Open AccessGenetic-molecular characterization in the diagnosis of primary immunodeficiencies
Author(s) -
Gesmar Rodrigues Silva Segundo
Publication year - 2021
Publication title -
jornal de pediatria
Language(s) - English
Resource type - Journals
eISSN - 1678-4782
pISSN - 0021-7557
DOI - 10.1016/j.jped.2020.09.007
Subject(s) - genetic testing , medicine , heredity , disease , exome sequencing , genetic counseling , primary immunodeficiency , whole genome sequencing , inheritance (genetic algorithm) , medical genetics , genetics , genome , biology , mutation , gene , pathology
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.