Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan

Conclusions: Our data demonstrated that WES is an efficient tool for determining genetic etiologies of RBC membrane disorders and can facilitate accurate diagnosis and genetic counseling. Additional studies should be conducted on larger cohorts to investigate the distribution of gene mutations in patients with RBC membrane disorders in Taiwan.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research