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Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in south China.

Hassan AbolhassaniTingyan HeYin LuoChengrong LiChe Kang LimHassan AbolhassaniJun YangLennart Hammarström
Published in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2019)
The current study provides the first collective study of PID phenotypes and genotypes in south China and provides a strong argument for the diagnostic application of targeted next-generation sequencing panels in patients with suspected PID.
Keyphrases
  • copy number
  • dna methylation
  • circulating tumor