The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.

Abstract excerpt

In the diagnosis of primary immunodeficiencies which are heterogeneous groups of genetic disorders, next-generation sequencing strategies take an important place. Protein expression analyses and some functional studies which are fundamental to determine the pathogenicity of the mutation are also performed to accelerate the diagnosis of PIDs before sequencing. However, protein expressions and functions do not...

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