Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next‐generation sequencing‐based laboratory‐developed screening test

BACKGROUND: This study was to reveal the prevalence of definite familial hypercholesterolemia (FH) in the hospital‐visiting population, determine the pathogenic mutation detection rate in clinically diagnosed definite FH patients, and expand the FH mutation spectrum in China. METHODS: Blood lipid pr...

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Detalles Bibliográficos
Autores principales: Jingxin, Shan, Shitong, Cheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747561/
https://www.ncbi.nlm.nih.gov/pubmed/36226792
http://dx.doi.org/10.1002/mgg3.2070

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747561/
https://www.ncbi.nlm.nih.gov/pubmed/36226792
http://dx.doi.org/10.1002/mgg3.2070

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