Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia

Chin Med J (Engl). 2020 Nov 19;134(7):840-841. doi: 10.1097/CM9.0000000000001224.
No abstract available

MeSH terms

  • Child
  • DNA Copy Number Variations* / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Hyperlipoproteinemia Type II* / diagnosis
  • Hyperlipoproteinemia Type II* / genetics
  • Multiplex Polymerase Chain Reaction