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Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.

An-Ping XuMingyang LiYinghui YeLiping LiMinjing MaShang Ying WuLing Ji
Published in: International journal of laboratory hematology (2023)
We observed a high prevalence of HBD gene mutations in southern China. Our findings provide a genetic basis for screening for δ-thalassemia and enrich the spectrum of HBD gene mutations.
Keyphrases
  • copy number
  • genome wide
  • dna methylation
  • gene expression