Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next‐generation sequencing‐based laboratory‐developed screening test
Author:
Affiliation:
1. Department of Laboratory Medicine The First Hospital of China Medical University Shenyang China
2. Department of Biomedical Engineering HE University Shenyang China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2070
Reference36 articles.
1. Genetic identification of familial hypercholesterolemia within a single U.S. health care system
2. A method and server for predicting damaging missense mutations
3. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
4. Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease
5. Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese
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