Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns

In conclusion, the spectrum of FH-causing mutations in the newborns of Qingdao, China was described for the first time. These data can serve as a considerable dataset for next-generation sequencing analysis of the Chinese population with FH and potentially helping reform regional policies for early detection and prevention of FH.PMID:38018368 | DOI:10.1111/cge.14453
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research