Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia.
- Author:
Hui YAN
1
;
Jian-Hui QIU
1
;
Yi-Nan MA
2
;
Yang XIAO
2
;
Jun-Bao DU
1
Author Information
- Publication Type:Journal Article
- MeSH: Child; DNA Copy Number Variations/genetics*; High-Throughput Nucleotide Sequencing; Humans; Hyperlipoproteinemia Type II/genetics*; Multiplex Polymerase Chain Reaction
- From: Chinese Medical Journal 2020;134(7):840-841
- CountryChina
- Language:English
